ClinVar Miner

List of variants reported as likely pathogenic for Hirschsprung disease, susceptibility to, 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
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_001301130.2(POLR2F):c.453-24294G>C rs533778281 0.00095
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404 0.00063
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) rs200894751 0.00022
NM_006941.4(SOX10):c.832A>G (p.Ile278Val) rs760539449 0.00006
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val) rs1419539530 0.00003
NM_001301130.2(POLR2F):c.453-24860G>A rs606231342 0.00001
NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys) rs759944122 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040 0.00001
NM_001352890.3(DENND3):c.2160del (p.Lys720fs) rs1057519052
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) rs765763704
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser) rs1057519323
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter) rs1057519322
NM_020975.6(RET):c.1438G>T (p.Glu480Ter)
NM_020975.6(RET):c.1522+1G>A
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
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.1879+1G>A rs1588873476
NM_020975.6(RET):c.1880-2A>G rs193922699
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
NM_020975.6(RET):c.2629G>C (p.Ala877Pro) rs1838178869
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
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>T (p.Arg287Leu) rs1564491460
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344

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