ClinVar Miner

List of variants in gene CCDC40, GAA studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_017950.4(CCDC40):c.*149T>C rs2304852 0.48973
NM_017950.4(CCDC40):c.*186A>C rs2304851 0.38175
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) rs142135083 0.00002
NM_000152.5(GAA):c.-75C>G rs80020206

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