List of variants reported as pathogenic for Wiskott-Aldrich syndrome

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.48681722_48688043inv
NM_000377.3(WAS):c.1001del (p.Gly334fs)	rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	rs132630271
NM_000377.3(WAS):c.1097del (p.Gly366fs)	rs587776744
NM_000377.3(WAS):c.11del (p.Gly4fs)	rs587776745
NM_000377.3(WAS):c.1271dup (p.Leu425fs)	rs1557007312
NM_000377.3(WAS):c.1315_1453+204del	rs1602179794
NM_000377.3(WAS):c.1337_1338+9del	rs1602179810
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs)	rs2062432605
NM_000377.3(WAS):c.1405dup (p.Ala469fs)	rs2062432653
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	rs1064793293
NM_000377.3(WAS):c.177del (p.Gly60fs)	rs2147262829
NM_000377.3(WAS):c.1A>T (p.Met1Leu)	rs587776742
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)	rs2062412810
NM_000377.3(WAS):c.257G>A (p.Arg86His)	rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)	rs132630268
NM_000377.3(WAS):c.35dup (p.Arg13fs)	rs2062410421
NM_000377.3(WAS):c.360+1G>A	rs1057520700
NM_000377.3(WAS):c.360+1G>C	rs1057520700
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	rs193922415
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3])	rs587776743
NM_000377.3(WAS):c.559+2T>G	rs1602177733
NM_000377.3(WAS):c.559+5G>A	rs886039451
NM_000377.3(WAS):c.560-1G>A	rs1602178087
NM_000377.3(WAS):c.723del (p.Ser242fs)	rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs)	rs2147264989
NM_000377.3(WAS):c.735-2A>G	rs1602178800
NM_000377.3(WAS):c.73_74del (p.Thr25fs)	rs1602176299
NM_000377.3(WAS):c.777+1G>A	rs1057517845
NM_000377.3(WAS):c.802del (p.Arg268fs)	rs2147265894
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	rs1557006239
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)	rs1557007123
NM_000377.3(WAS):c.990del (p.Ile331fs)	rs2147266326
WAS, 15,800-BP DEL

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