ClinVar Miner

List of variants in gene CACNA1D reported as likely benign for cardiac rhythm disease

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001128840.3(CACNA1D):c.1479-19C>T rs377304772 0.00003
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) rs201471889
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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