ClinVar Miner

List of variants reported as risk factor for Hirschsprung disease 1

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Total variants: 16
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HGVS dbSNP
NM_020975.6(RET):c.1179C>A (p.Phe393Leu) rs78098482
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858
NM_020975.6(RET):c.191C>T (p.Pro64Leu) rs77596424
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) rs75075748
NM_020975.6(RET):c.2690G>A (p.Arg897Gln) rs76087194
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.406G>T (p.Glu136Ter) rs79014735
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_020975.6(RET):c.692G>A (p.Arg231His) rs79661516
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
RET, 1-BP DEL, G1120

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