ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.38016774G>C rs533778281 0.00095
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NC_000022.11:g.38016208G>A rs606231342 0.00001
NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys) rs759944122 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_001352890.3(DENND3):c.2160del (p.Lys720fs) rs1057519052
NM_002181.4(IHH):c.151C>A (p.Gln51Lys) rs1553540620
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.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.277G>A (p.Gly93Ser)
NM_020975.6(RET):c.2780del (p.Ile927fs)
NM_020975.6(RET):c.2888T>C (p.Leu963Pro)
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571

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