ClinVar Miner

List of variants studied for Hirschsprung disease, susceptibility to, 1 by Clinical Genetics, Erasmus University Medical Center

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=) rs2295933 0.36600
NM_001318241.2(TBATA):c.666T>C (p.Ala222=) rs2254433 0.29892
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=) rs2289001 0.26784
NM_001010848.4(NRG3):c.823+1856C>G rs1884282 0.13286
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=) rs17101196 0.09216
NM_016320.5(NUP98):c.2637G>A (p.Pro879=) rs35803045 0.05148
NM_001370640.6(OR1F1):c.47G>A (p.Gly16Glu) rs142486394 0.00348
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys) rs114144673 0.00186
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) rs150254638 0.00140
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu) rs41298555 0.00046
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His) rs201361018 0.00031
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp) rs144875196 0.00018
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys) rs772101978 0.00011
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln) rs200841053 0.00006
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln) rs745883985 0.00003
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn) rs374688808 0.00003
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp) rs750291946 0.00002
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr) rs551874512 0.00001
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys) rs768905186 0.00001
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln) rs775611332 0.00001
NM_000130.5(F5):c.1867A>G (p.Thr623Ala) rs1571577319
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del) rs1554020079
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr) rs1453731006
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser) rs1582614694
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr) rs1571197028
NM_001122659.3(EDNRB):c.*63G>A rs986500037
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile) rs73547308
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=) rs1045303
NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn) rs1589906631
NM_001395413.1(POR):c.1222T>C (p.Ser408Pro) rs781842238
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_005264.8(GFRA1):c.1A>T (p.Met1Leu) rs1589930581
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala) rs1598243579
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr) rs1598243550
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys) rs1596137692
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=) rs1573707562
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu) rs1578240731
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_031200.3(CCR9):c.3G>T (p.Met1Ile) rs1553617019
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter) rs1581415304

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