ClinVar Miner

List of variants in gene WDR73 studied for Galloway-Mowat syndrome 1

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_032856.5(WDR73):c.591A>G (p.Ser197=) rs2271432 0.87940
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) rs72750868 0.06616
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
NM_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_032856.5(WDR73):c.883+8C>T rs200133030 0.00072
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_032856.5(WDR73):c.816T>C (p.Pro272=) rs374742538 0.00001
NM_032856.5(WDR73):c.1019C>G (p.Pro340Arg)
NM_032856.5(WDR73):c.1025C>T (p.Pro342Leu)
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.1063A>G (p.Arg355Gly)
NM_032856.5(WDR73):c.1086_1089delinsCAGCA (p.Asp363fs)
NM_032856.5(WDR73):c.1087G>A (p.Asp363Asn)
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873
NM_032856.5(WDR73):c.1097T>C (p.Leu366Pro) rs540074958
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.1118A>G (p.Asp373Gly)
NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr)
NM_032856.5(WDR73):c.1127C>T (p.Ala376Val)
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032856.5(WDR73):c.1133G>A (p.Arg378His)
NM_032856.5(WDR73):c.124G>A (p.Gly42Ser)
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.14A>T (p.Asp5Val)
NM_032856.5(WDR73):c.152T>C (p.Ile51Thr)
NM_032856.5(WDR73):c.190G>A (p.Glu64Lys)
NM_032856.5(WDR73):c.21G>A (p.Trp7Ter)
NM_032856.5(WDR73):c.256A>G (p.Ile86Val)
NM_032856.5(WDR73):c.274G>A (p.Val92Met)
NM_032856.5(WDR73):c.284C>G (p.Thr95Ser)
NM_032856.5(WDR73):c.285_287+1dup
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) rs863223396
NM_032856.5(WDR73):c.293_334del (p.Leu98_Trp111del)
NM_032856.5(WDR73):c.295G>C (p.Val99Leu)
NM_032856.5(WDR73):c.29A>G (p.Glu10Gly)
NM_032856.5(WDR73):c.328G>A (p.Val110Met)
NM_032856.5(WDR73):c.32C>G (p.Ser11Cys)
NM_032856.5(WDR73):c.334C>G (p.Gln112Glu)
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.353-13C>T
NM_032856.5(WDR73):c.379G>A (p.Ala127Thr)
NM_032856.5(WDR73):c.388_391del (p.Glu130fs)
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.442G>A (p.Gly148Arg)
NM_032856.5(WDR73):c.467G>A (p.Arg156Gln)
NM_032856.5(WDR73):c.475C>T (p.Gln159Ter)
NM_032856.5(WDR73):c.478G>T (p.Val160Phe)
NM_032856.5(WDR73):c.481G>A (p.Val161Ile)
NM_032856.5(WDR73):c.48G>C (p.Gln16His)
NM_032856.5(WDR73):c.509A>G (p.Tyr170Cys)
NM_032856.5(WDR73):c.516A>C (p.Ser172=)
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_032856.5(WDR73):c.534G>C (p.Glu178Asp)
NM_032856.5(WDR73):c.559G>A (p.Asp187Asn)
NM_032856.5(WDR73):c.563C>G (p.Ala188Gly)
NM_032856.5(WDR73):c.595C>T (p.Arg199Trp)
NM_032856.5(WDR73):c.5A>C (p.Asp2Ala)
NM_032856.5(WDR73):c.5A>T (p.Asp2Val)
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.632C>T (p.Pro211Leu)
NM_032856.5(WDR73):c.641A>G (p.Asn214Ser)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.644G>A (p.Arg215His)
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_032856.5(WDR73):c.656_658del (p.Pro219_Gly220delinsArg)
NM_032856.5(WDR73):c.664G>T (p.Gly222Cys)
NM_032856.5(WDR73):c.665G>T (p.Gly222Val)
NM_032856.5(WDR73):c.687A>T (p.Glu229Asp)
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.691G>A (p.Gly231Arg)
NM_032856.5(WDR73):c.697T>C (p.Trp233Arg)
NM_032856.5(WDR73):c.699G>A (p.Trp233Ter) rs1482196384
NM_032856.5(WDR73):c.6T>G (p.Asp2Glu)
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.716C>T (p.Pro239Leu)
NM_032856.5(WDR73):c.720C>G (p.Ser240Arg)
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) rs866551482
NM_032856.5(WDR73):c.76G>A (p.Ala26Thr)
NM_032856.5(WDR73):c.7C>T (p.Pro3Ser)
NM_032856.5(WDR73):c.800G>A (p.Cys267Tyr)
NM_032856.5(WDR73):c.814C>A (p.Pro272Thr)
NM_032856.5(WDR73):c.857G>T (p.Gly286Val)
NM_032856.5(WDR73):c.85G>C (p.Val29Leu)
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.881C>T (p.Ser294Leu)
NM_032856.5(WDR73):c.882A>G (p.Ser294=)
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.89T>C (p.Leu30Pro)
NM_032856.5(WDR73):c.8C>T (p.Pro3Leu)
NM_032856.5(WDR73):c.91G>C (p.Glu31Gln)
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.934C>T (p.Arg312Trp)
NM_032856.5(WDR73):c.934_952delinsT (p.Arg312_Arg318delinsTrp)
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_032856.5(WDR73):c.947G>C (p.Gly316Ala)
NM_032856.5(WDR73):c.953G>A (p.Arg318Gln)
NM_032856.5(WDR73):c.962T>G (p.Val321Gly)
NM_032856.5(WDR73):c.986G>A (p.Gly329Asp)
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466

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