ClinVar Miner

List of variants in gene CDH2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001792.5(CDH2):c.399+3A>G rs200907338 0.00060
NM_001792.5(CDH2):c.865G>A (p.Val289Ile) rs142589795 0.00038
NM_001792.5(CDH2):c.1499A>G (p.Asn500Ser) rs201866479 0.00017
NM_001792.5(CDH2):c.2665G>A (p.Asp889Asn) rs200373316 0.00005
NM_001792.5(CDH2):c.638A>G (p.Asn213Ser) rs1445536352 0.00001
NM_001792.5(CDH2):c.1483C>T (p.Pro495Ser)
NM_001792.5(CDH2):c.1535C>T (p.Ala512Val)
NM_001792.5(CDH2):c.173-22589C>T
NM_001792.5(CDH2):c.1930T>C (p.Ser644Pro) rs1599010878
NM_001792.5(CDH2):c.2027A>T (p.Tyr676Phe)
NM_001792.5(CDH2):c.231A>T (p.Ala77=) rs148115828
NM_001792.5(CDH2):c.2664C>A (p.Asn888Lys)
NM_001792.5(CDH2):c.714T>G (p.His238Gln) rs2144017980

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