List of variants studied for X-linked disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	rs587783771	0.00001
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter)	rs1309588455	0.00001
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)	rs797045713
NM_000252.3(MTM1):c.342_342+4del	rs797045717
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	rs587783841
NM_000252.3(MTM1):c.63+1G>T	rs587783843
NM_000475.5(NR0B1):c.1169-1G>T
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)	rs1602979414
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)	rs1057517948
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)	rs2147439499
NM_001039591.3(USP9X):c.3559-1G>C	rs2147163808
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)	rs1556200641
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser)	rs1569314471
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488
NM_007363.5(NONO):c.731dup (p.Asn244fs)	rs1555950011
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)	rs1557036757
NM_153252.5(BRWD3):c.4006-1G>A
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter)	rs1057518650
NM_203475.3(PORCN):c.1356del (p.Cys453fs)	rs1602085557
Single allele

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