ClinVar Miner

List of variants in gene CDH2 reported as likely benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001792.5(CDH2):c.352G>A (p.Ala118Thr) rs17445840 0.04171
NM_001792.5(CDH2):c.2534A>G (p.Asn845Ser) rs2289664 0.02055
NM_001792.5(CDH2):c.141G>A (p.Lys47=) rs145211596 0.00095
NM_001792.5(CDH2):c.865G>A (p.Val289Ile) rs142589795 0.00038
NM_001792.5(CDH2):c.1430C>T (p.Pro477Leu) rs182701313 0.00023
NM_001792.5(CDH2):c.172+6A>G rs188251941
NM_001792.5(CDH2):c.173-31501G>T rs980208217
NM_001792.5(CDH2):c.231A>T (p.Ala77=) rs148115828

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