ClinVar Miner

List of variants in gene CDH2 studied for cardiovascular disorder

Included ClinVar conditions (1473):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001792.5(CDH2):c.885C>T (p.Asp295=) rs17493618 0.00300
NM_001792.5(CDH2):c.702+6A>T rs17493682 0.00293
NM_001792.5(CDH2):c.1306G>A (p.Asp436Asn) rs142861371 0.00009
NM_001792.5(CDH2):c.14C>T (p.Ala5Val) rs1284853215 0.00004
NM_001792.5(CDH2):c.1100C>T (p.Thr367Met) rs200933425 0.00001
NM_001792.5(CDH2):c.1133A>G (p.Asn378Ser)
NM_001792.5(CDH2):c.1159-1G>A
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) rs568089577
NM_001792.5(CDH2):c.1344+1G>A rs2143975765
NM_001792.5(CDH2):c.1604C>G (p.Thr535Ser)
NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala)
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro) rs965753331

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