ClinVar Miner

List of variants in gene WDR73 reported as uncertain significance for CAMOS syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00020
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_032856.5(WDR73):c.29A>G (p.Glu10Gly) rs759400969 0.00009
NM_032856.5(WDR73):c.595C>T (p.Arg199Trp) rs373323041 0.00009
NM_032856.5(WDR73):c.697T>C (p.Trp233Arg) rs371698893 0.00009
NM_032856.5(WDR73):c.632C>T (p.Pro211Leu) rs373626470 0.00006
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys) rs538507515 0.00006
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys) rs375811228 0.00005
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn) rs554834821 0.00004
NM_032856.5(WDR73):c.857G>T (p.Gly286Val) rs746926275 0.00004
NM_032856.5(WDR73):c.284C>G (p.Thr95Ser) rs374619061 0.00003
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.1133G>A (p.Arg378His) rs375954913 0.00002
NM_032856.5(WDR73):c.76G>A (p.Ala26Thr) rs186601102 0.00002
NM_032856.5(WDR73):c.442G>A (p.Gly148Arg) rs772737144 0.00001
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys) rs773497555 0.00001
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn) rs569814307 0.00001
NM_032856.5(WDR73):c.814C>A (p.Pro272Thr) rs1896420569 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.1063A>G (p.Arg355Gly)
NM_032856.5(WDR73):c.1087G>A (p.Asp363Asn)
NM_032856.5(WDR73):c.1097T>C (p.Leu366Pro) rs540074958
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter) rs2505362471
NM_032856.5(WDR73):c.1118A>G (p.Asp373Gly)
NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr) rs185538375
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.124G>A (p.Gly42Ser)
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.256A>G (p.Ile86Val)
NM_032856.5(WDR73):c.274G>A (p.Val92Met)
NM_032856.5(WDR73):c.295G>C (p.Val99Leu) rs749705611
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) rs756843163
NM_032856.5(WDR73):c.379G>A (p.Ala127Thr)
NM_032856.5(WDR73):c.467G>A (p.Arg156Gln)
NM_032856.5(WDR73):c.478G>T (p.Val160Phe)
NM_032856.5(WDR73):c.481G>A (p.Val161Ile) rs368793393
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.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.5A>C (p.Asp2Ala)
NM_032856.5(WDR73):c.5A>T (p.Asp2Val) rs745828681
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_032856.5(WDR73):c.641A>G (p.Asn214Ser)
NM_032856.5(WDR73):c.644G>A (p.Arg215His) rs779449451
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.691G>A (p.Gly231Arg)
NM_032856.5(WDR73):c.6T>G (p.Asp2Glu)
NM_032856.5(WDR73):c.716C>T (p.Pro239Leu)
NM_032856.5(WDR73):c.720C>G (p.Ser240Arg)
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.7C>T (p.Pro3Ser)
NM_032856.5(WDR73):c.800G>A (p.Cys267Tyr)
NM_032856.5(WDR73):c.85G>C (p.Val29Leu)
NM_032856.5(WDR73):c.875C>T (p.Ala292Val) rs2505370361
NM_032856.5(WDR73):c.881C>T (p.Ser294Leu)
NM_032856.5(WDR73):c.882A>G (p.Ser294=)
NM_032856.5(WDR73):c.89T>C (p.Leu30Pro)
NM_032856.5(WDR73):c.8C>T (p.Pro3Leu) rs368919799
NM_032856.5(WDR73):c.91G>C (p.Glu31Gln)
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) rs758913043
NM_032856.5(WDR73):c.934_952delinsT (p.Arg312_Arg318delinsTrp)
NM_032856.5(WDR73):c.947G>C (p.Gly316Ala) rs370347033
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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