ClinVar Miner

List of variants in gene RET reported as uncertain significance for Hirschsprung disease

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_020630.4(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020630.4(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020630.4(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020630.4(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020630.4(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020630.4(RET):c.3116C>T (p.Pro1039Leu) rs79853121
NM_020630.4(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.4(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.4(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.4(RET):c.1891G>A (p.Asp631Asn) rs377767406
NM_020975.4(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.4(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.5(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.5(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.5(RET):c.2527G>A (p.Glu843Lys) rs755837568
NM_020975.5(RET):c.2945G>A (p.Arg982His) rs368550200
NM_020975.5(RET):c.3191T>C (p.Met1064Thr) rs149513065
NM_020975.5(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.5(RET):c.433G>A (p.Val145Ile)

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