ClinVar Miner

List of variants reported as likely 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_020975.6(RET):c.277G>A (p.Gly93Ser)
NM_020975.6(RET):c.2780del (p.Ile927fs)

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