ClinVar Miner

List of variants in gene WAC reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10p12.1(chr10:28862876-28916803)x1
NM_016628.5(WAC):c.1072C>T (p.Gln358Ter) rs1057518233
NM_016628.5(WAC):c.1072del (p.Gln358fs) rs2132809028
NM_016628.5(WAC):c.112del (p.Ser38fs) rs864321693
NM_016628.5(WAC):c.1161_1164del (p.Asn387fs) rs1589237447
NM_016628.5(WAC):c.1171dup (p.Thr391fs) rs886041640
NM_016628.5(WAC):c.1198C>T (p.Gln400Ter) rs1064796758
NM_016628.5(WAC):c.1255_1256del (p.Leu419fs)
NM_016628.5(WAC):c.1319_1337dup (p.Ser446_Pro447insAsnIleTer) rs2132833820
NM_016628.5(WAC):c.1346C>G (p.Ser449Ter) rs1057524482
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_016628.5(WAC):c.1437+1G>A rs1554791124
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016628.5(WAC):c.1556+1G>A rs1057518215
NM_016628.5(WAC):c.1567dup (p.Ser523fs) rs2132862248
NM_016628.5(WAC):c.1633C>T (p.Gln545Ter) rs1564422380
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.1707dup (p.His570fs) rs1554791965
NM_016628.5(WAC):c.1746+2T>C rs2132863198
NM_016628.5(WAC):c.1747-1G>A rs2132872003
NM_016628.5(WAC):c.1820dup (p.Asn607fs) rs886041564
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter) rs1085307480
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
NM_016628.5(WAC):c.1864dup (p.Arg622fs)
NM_016628.5(WAC):c.203_204del (p.Lys68fs) rs1589115392
NM_016628.5(WAC):c.228_231del (p.Ser76fs)
NM_016628.5(WAC):c.251_252insAA (p.His84fs) rs1554776447
NM_016628.5(WAC):c.252_253del (p.His84fs) rs1554776446
NM_016628.5(WAC):c.255_256del (p.Arg85fs) rs2132308307
NM_016628.5(WAC):c.257_258del (p.Val86fs) rs1554776457
NM_016628.5(WAC):c.25C>T (p.Gln9Ter) rs1589110050
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.310del (p.His104fs) rs1589196229
NM_016628.5(WAC):c.313dup (p.Ser105fs) rs1589196234
NM_016628.5(WAC):c.329C>G (p.Ser110Ter)
NM_016628.5(WAC):c.350dup (p.Ser118fs)
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.382-2A>G rs1554787096
NM_016628.5(WAC):c.444C>A (p.Tyr148Ter) rs2132669206
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_016628.5(WAC):c.482_483del (p.Lys161fs)
NM_016628.5(WAC):c.577C>T (p.Gln193Ter) rs963822803
NM_016628.5(WAC):c.658del (p.Ile220fs) rs1064794867
NM_016628.5(WAC):c.670_673del (p.Thr224fs) rs1589219377
NM_016628.5(WAC):c.851_866dup (p.Lys290fs) rs1840343718
NM_016628.5(WAC):c.851dup (p.Ala285fs) rs886041891
NM_016628.5(WAC):c.854dup (p.Ser286fs)

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