ClinVar Miner

List of variants studied for X-linked disease by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.522G>T (p.Gln174His)
NM_000166.6(GJB1):c.272T>C (p.Val91Ala)
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter) rs2080104580
NM_001097642.3(GJB1):c.-16-475C>G rs2092540944
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) rs1933972061
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter) rs2093969640
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs) rs2147258610
NM_033380.3(COL4A5):c.1545_1546del (p.Glu516fs) rs2147809078
NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)

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