ClinVar Miner

List of variants in gene RET reported as likely pathogenic for Hirschsprung disease

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Total variants: 10
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HGVS dbSNP
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.860G>T (p.Arg287Leu)
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689

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