ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 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_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_001301131.1(POLR2F):c.294-27388_*10734del
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_020975.6(RET):c.1280_1281del (p.Val427fs) rs1564494285
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.712G>T (p.Glu238Ter) rs1588866040
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460

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