ClinVar Miner

Variants in gene CACNA1F with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=) rs143269092 0.00227
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=) rs150205903 0.00216
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) rs141521080 0.00088
NM_001256789.3(CACNA1F):c.3741C>T (p.Asp1247=) rs199504022 0.00043
NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=) rs190606884 0.00027
NM_001256789.3(CACNA1F):c.2635G>A (p.Ala879Thr) rs782464083 0.00014
NM_001256789.3(CACNA1F):c.1382C>T (p.Ala461Val) rs2272704 0.00006
NM_001256789.3(CACNA1F):c.393G>A (p.Glu131=) rs781861736 0.00003
NM_001256789.3(CACNA1F):c.1290C>T (p.Ala430=) rs782593082 0.00001
NM_001256789.3(CACNA1F):c.123G>A (p.Gly41=) rs35142387
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576

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