ClinVar Miner

List of variants reported as likely pathogenic for Hirschsprung disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) rs1566304640
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034
NM_001301130.2(POLR2F):c.453-24294G>C rs533778281
NM_001301130.2(POLR2F):c.453-24860G>A rs606231342
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_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620
NM_003924.3(PHOX2B):c.445C>G (p.Arg149Gly) rs1560465785
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_006941.3(SOX10):c.832A>G (p.Ile278Val) rs760539449
NM_014957.5(DENND3):c.1959del (p.Lys653fs) rs1057519052
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser) rs1057519323
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter) rs1057519322
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
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
NM_020975.6(RET):c.1880-2A>G rs193922699
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_138964.3(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404
NM_152710.4(TBATA):c.157C>T (p.Arg53Cys) rs759944122
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344

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