List of variants reported as pathogenic for Hirschsprung disease, susceptibility to, 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	rs75234356	0.00001
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.2753T>C (p.Met918Thr)	rs74799832

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