ClinVar Miner

List of variants reported as pathogenic for Aganglionic megacolon by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	rs77724903	0.00178
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	rs77503355
NM_020975.6(RET):c.860G>A (p.Arg287Gln)	rs1564491460

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