ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val)

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