ClinVar Miner

List of variants in gene RPUSD1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_058192.3(RPUSD1):c.284T>C (p.Val95Ala) rs147488694 0.00020
NM_058192.3(RPUSD1):c.773C>T (p.Pro258Leu) rs148500888 0.00020
NM_058192.3(RPUSD1):c.617T>C (p.Met206Thr) rs140945764 0.00017
NM_058192.3(RPUSD1):c.316C>T (p.His106Tyr) rs577334911 0.00015
NM_058192.3(RPUSD1):c.677C>T (p.Thr226Met) rs758024012 0.00010
NM_058192.3(RPUSD1):c.41G>A (p.Arg14Gln) rs201352829 0.00009
NM_058192.3(RPUSD1):c.134G>A (p.Arg45Gln) rs536733840 0.00007
NM_058192.3(RPUSD1):c.110C>G (p.Thr37Ser) rs377514747 0.00005
NM_058192.3(RPUSD1):c.247G>A (p.Ala83Thr) rs199529893 0.00005
NM_058192.3(RPUSD1):c.596G>A (p.Arg199Gln) rs780902067 0.00005
NM_058192.3(RPUSD1):c.737C>T (p.Ser246Leu) rs147626249 0.00005
NM_058192.3(RPUSD1):c.916T>C (p.Trp306Arg) rs757264370 0.00005
NM_058192.3(RPUSD1):c.278G>A (p.Arg93Gln) rs766957011 0.00004
NM_058192.3(RPUSD1):c.103C>T (p.Arg35Trp) rs779675430 0.00003
NM_058192.3(RPUSD1):c.580G>A (p.Gly194Arg) rs1413042686 0.00003
NM_058192.3(RPUSD1):c.658G>A (p.Glu220Lys) rs773438546 0.00003
NM_058192.3(RPUSD1):c.770C>A (p.Thr257Asn) rs61746673 0.00003
NM_058192.3(RPUSD1):c.929C>T (p.Pro310Leu) rs537790989 0.00003
NM_058192.3(RPUSD1):c.175G>C (p.Gly59Arg) rs935125578 0.00002
NM_058192.3(RPUSD1):c.530G>A (p.Arg177His) rs1416441008 0.00002
NM_058192.3(RPUSD1):c.736T>C (p.Ser246Pro) rs140830409 0.00002
NM_058192.3(RPUSD1):c.859A>G (p.Thr287Ala) rs759669679 0.00002
NM_058192.3(RPUSD1):c.308T>C (p.Leu103Pro) rs763656788 0.00001
NM_058192.3(RPUSD1):c.364A>G (p.Ser122Gly) rs749222760 0.00001
NM_058192.3(RPUSD1):c.373G>A (p.Gly125Ser) rs767804092 0.00001
NM_058192.3(RPUSD1):c.626A>G (p.His209Arg) rs376986455 0.00001
NM_058192.3(RPUSD1):c.65A>G (p.Asn22Ser) rs767358142 0.00001
NM_058192.3(RPUSD1):c.685C>T (p.Pro229Ser) rs763655493 0.00001
NM_058192.3(RPUSD1):c.694C>T (p.Pro232Ser) rs1017523395 0.00001
NM_058192.3(RPUSD1):c.860C>T (p.Thr287Ile) rs1472104344 0.00001
NM_058192.3(RPUSD1):c.140G>A (p.Arg47His)
NM_058192.3(RPUSD1):c.14G>A (p.Ser5Asn)
NM_058192.3(RPUSD1):c.208A>G (p.Thr70Ala)
NM_058192.3(RPUSD1):c.229G>T (p.Ala77Ser)
NM_058192.3(RPUSD1):c.250G>A (p.Gly84Ser)
NM_058192.3(RPUSD1):c.299T>G (p.Leu100Arg)
NM_058192.3(RPUSD1):c.344G>C (p.Ser115Thr) rs1448936759
NM_058192.3(RPUSD1):c.34G>C (p.Val12Leu)
NM_058192.3(RPUSD1):c.368C>T (p.Thr123Met)
NM_058192.3(RPUSD1):c.40C>T (p.Arg14Trp)
NM_058192.3(RPUSD1):c.428C>T (p.Pro143Leu) rs762631255
NM_058192.3(RPUSD1):c.430A>G (p.Ser144Gly)
NM_058192.3(RPUSD1):c.433C>G (p.Leu145Val) rs776406455
NM_058192.3(RPUSD1):c.460G>A (p.Gly154Arg)
NM_058192.3(RPUSD1):c.473G>A (p.Gly158Asp)
NM_058192.3(RPUSD1):c.488A>G (p.Lys163Arg) rs2544279179
NM_058192.3(RPUSD1):c.514C>G (p.Arg172Gly)
NM_058192.3(RPUSD1):c.548T>C (p.Leu183Pro) rs757434302
NM_058192.3(RPUSD1):c.559G>A (p.Val187Met)
NM_058192.3(RPUSD1):c.590C>T (p.Ser197Leu)
NM_058192.3(RPUSD1):c.628G>T (p.Ala210Ser)
NM_058192.3(RPUSD1):c.769A>T (p.Thr257Ser) rs368540149
NM_058192.3(RPUSD1):c.787G>A (p.Glu263Lys)
NM_058192.3(RPUSD1):c.838G>T (p.Gly280Cys) rs1282405747
NM_058192.3(RPUSD1):c.83G>A (p.Arg28His) rs199929908
NM_058192.3(RPUSD1):c.842G>A (p.Arg281Gln) rs763955926
NM_058192.3(RPUSD1):c.854C>T (p.Pro285Leu)
NM_058192.3(RPUSD1):c.88G>A (p.Asp30Asn)
NM_058192.3(RPUSD1):c.899T>C (p.Leu300Pro)

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