ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp) rs751364653 0.00009
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys) rs774289573 0.00002
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His) rs769503871 0.00002
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn) rs753467037 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) rs953871050 0.00001
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.264A>C (p.Arg88Ser)
NM_001127222.2(CACNA1A):c.2695C>T (p.Arg899Cys)
NM_001127222.2(CACNA1A):c.271G>C (p.Ala91Pro)
NM_001127222.2(CACNA1A):c.3148A>G (p.Ile1050Val)
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.4340G>C (p.Trp1447Ser)
NM_001127222.2(CACNA1A):c.5515G>T (p.Asp1839Tyr)
NM_001127222.2(CACNA1A):c.5749C>A (p.Gln1917Lys)
NM_001127222.2(CACNA1A):c.6025A>C (p.Thr2009Pro)
NM_001127222.2(CACNA1A):c.6592G>C (p.Glu2198Gln)
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6643C>T (p.His2215Tyr)
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6831C>G (p.Ser2277Arg)
NM_001127222.2(CACNA1A):c.7126C>T (p.Arg2376Trp)
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn) rs1568416040
NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln)
NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)

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