List of variants reported as likely pathogenic for X-linked disease by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 7

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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_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

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