ClinVar Miner

List of variants reported as uncertain significance for Aganglionic megacolon

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Total variants: 45
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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_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys) rs772101978 0.00011
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
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_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 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_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp) rs750291946 0.00002
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 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_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_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln) rs1878741475
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg) rs1878958050
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_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_032177.4(PHAX):c.379C>T (p.Gln127Ter) rs1581415304

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