ClinVar Miner

List of variants in gene RET studied for Hirschsprung disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) rs78098482
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_020975.6(RET):c.1276_1277TG[2] (p.Val427fs) rs1564494285
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1879+1G>A
NM_020975.6(RET):c.1880-2A>G rs193922699
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406
NM_020975.6(RET):c.191C>T (p.Pro64Leu) rs77596424
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) rs75075748
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.6(RET):c.2690G>A (p.Arg897Gln) rs76087194
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.406G>T (p.Glu136Ter) rs79014735
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.692G>A (p.Arg231His) rs79661516
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.867+4del rs398124368
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
RET, 1-BP DEL, G1120

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