ClinVar Miner

List of variants studied for X-linked disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_002351.4(SH2D1A):c.138-3C>G rs1556620697
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp) rs1019534975
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246

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