ClinVar Miner

List of variants studied for Sinoatrial node dysfunction and deafness by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.2407-17T>C rs2612033 0.87820
NM_001128840.3(CACNA1D):c.-54T>C rs312480 0.84251
NM_001128840.3(CACNA1D):c.2812-43T>C rs2612026 0.76939
NM_001128840.3(CACNA1D):c.3007-71G>C rs2612024 0.76839
NM_001128840.3(CACNA1D):c.4045-57G>C rs2278517 0.67693
NM_001128840.3(CACNA1D):c.4690+42G>A rs1829423 0.65647
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
NM_001128840.3(CACNA1D):c.2473+103A>T rs2306866 0.58204
NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) rs1045958 0.25881
NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=) rs10154841 0.24426
NM_001128840.3(CACNA1D):c.4045-43G>A rs35146621 0.20735

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