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

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Total variants: 17

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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_001301131.1(POLR2F):c.294-27388_*10734del
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)	rs1554818362
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	rs76262710
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.1901G>A (p.Cys634Tyr)	rs75996173
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.2753T>C (p.Met918Thr)	rs74799832
NM_020975.6(RET):c.712G>T (p.Glu238Ter)	rs1588866040

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