ClinVar Miner

List of variants studied for Hirschsprung disease

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Total variants: 73
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HGVS dbSNP
NM_000130.5(F5):c.1867A>G (p.Thr623Ala)
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000941.3(POR):c.1231T>C (p.Ser411Pro)
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr)
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)
NM_001010848.4(NRG3):c.823+1856C>G
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser)
NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu) rs1805149
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr)
NM_001122659.3(EDNRB):c.*63G>A
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr)
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile)
NM_001301130.2(POLR2F):c.293+6894T>C rs760539449
NM_001318241.1(TBATA):c.666T>C (p.Ala222=)
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln)
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)
NM_003373.4(VCL):c.2388G>A (p.Pro796=) rs767809
NM_003924.3(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln)
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_005264.6(GFRA1):c.1A>T (p.Met1Leu)
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp)
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys)
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)
NM_014957.5(DENND3):c.1149C>T (p.Phe383=)
NM_014957.5(DENND3):c.3129G>A (p.Pro1043=)
NM_016320.5(NUP98):c.2637G>A (p.Pro879=)
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu)
NM_020066.5(FMN2):c.162del (p.Gly55fs)
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)
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.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
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.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
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.73+9277T>C rs2435357
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.860G>T (p.Arg287Leu)
NM_020975.6(RET):c.867+4del rs398124368
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter)
NM_033056.4(PCDH15):c.139G>A (p.Asp47Asn)
NM_138964.3(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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