ClinVar Miner

List of variants reported as uncertain significance for Hirschsprung disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000138.4(FBN1):c.1547G>A (p.Arg516Gln) rs775489067
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_001008781.2(FAT3):c.6916G>A (p.Val2306Ile) rs863223333
NM_001079846.1(CREBBP):c.7096G>A (p.Glu2366Lys) rs863223334
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg) rs540320780
NM_001111018.1(NAV2):c.2308C>T (p.Arg770Trp) rs144875196
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001306212.1(THBS4):c.1612C>T (p.Gln538Ter) rs745310807
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg) rs200438956
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg) rs143391519
NM_002253.3(KDR):c.2066C>T (p.Thr689Met) rs34038364
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_002658.5(PLAU):c.172G>A (p.Gly58Arg) rs55744193
NM_003238.5(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_005264.6(GFRA1):c.779T>C (p.Leu260Pro) rs863223332
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555
NM_007199.3(IRAK3):c.1461del (p.Asn487fs) rs776951445
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile) rs200028794
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln) rs138450443
NM_015229.4(CLUH):c.3661G>C (p.Asp1221His) rs201361018
NM_018899.6(PCDHAC2):c.2591G>A (p.Arg864His) rs150254638
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406
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.2371T>A (p.Tyr791Asn) rs377767417
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.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.3191T>C (p.Met1064Thr) rs149513065
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704
NM_031200.3(CCR9):c.3G>T (p.Met1Ile) rs1553617019
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_152754.2(SEMA3D):c.592G>A (p.Glu198Lys) rs549337695
NM_201266.2(NRP2):c.1000C>T (p.Arg334Cys) rs114144673
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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