ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
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_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971

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