ClinVar Miner

List of variants studied for Aganglionic megacolon

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
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_001102654.2(NTF3):c.266G>A (p.Gly89Glu) rs1805149 0.08142
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_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772 0.00261
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404 0.00063
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln) rs185418119 0.00031
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751 0.00022
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_006941.4(SOX10):c.832A>G (p.Ile278Val) rs760539449 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_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530 0.00003
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_020975.6(RET):c.867+4del rs398124368 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_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040 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_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
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.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) rs1588872865
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.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.860G>T (p.Arg287Leu) rs1564491460
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter) rs1581415304
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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