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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:74290268
GRCh38:
ChrX:75070433
ABCB7Anemia sideroblastic and spinocerebellar ataxiaPathogenic
(Apr 7, 2009)
no assertion criteria provided
2.
GRCh37:
ChrX:74290334
GRCh38:
ChrX:75070499
ABCB7Anemia sideroblastic and spinocerebellar ataxiaPathogenic
(Apr 7, 2009)
no assertion criteria provided
3.
GRCh37:
ChrX:74291351
GRCh38:
ChrX:75071516
ABCB7Anemia sideroblastic and spinocerebellar ataxia, not providedPathogenic
(Apr 3, 2014)
criteria provided, single submitter
4.
GRCh37:
ChrX:74295428
GRCh38:
ChrX:75075593
ABCB7Anemia sideroblastic and spinocerebellar ataxiaPathogenic
(Apr 3, 2014)
no assertion criteria provided
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