ClinVar Miner

List of variants in gene CACNA1F reported by PreventionGenetics, part of Exact Sciences

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) rs33910054 0.06102
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu) rs6520408 0.05244
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_001256789.3(CACNA1F):c.827C>T (p.Ala276Val) rs184711457 0.00082
NM_001256789.3(CACNA1F):c.811G>A (p.Gly271Arg) rs185809548 0.00065
NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=) rs190606884 0.00027
NM_001256789.3(CACNA1F):c.5160A>G (p.Glu1720=) rs377447461 0.00017
NM_001256789.3(CACNA1F):c.63C>A (p.Gly21=) rs782372812 0.00015
NM_001256789.3(CACNA1F):c.2635G>A (p.Ala879Thr) rs782464083 0.00014
NM_001256789.3(CACNA1F):c.3993C>T (p.Ala1331=) rs140353265 0.00012
NM_001256789.3(CACNA1F):c.1382C>T (p.Ala461Val) rs2272704 0.00006
NM_001256789.3(CACNA1F):c.3237-10G>A rs371955079 0.00005
NM_001256789.3(CACNA1F):c.2283G>A (p.Lys761=) rs781856621 0.00003
NM_001256789.3(CACNA1F):c.4014C>T (p.Phe1338=) rs781909111 0.00003
NM_001256789.3(CACNA1F):c.1290C>T (p.Ala430=) rs782593082 0.00001
NM_001256789.3(CACNA1F):c.2188C>T (p.Leu730Phe) rs782109538 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.3568C>T (p.Leu1190=) rs1557107078 0.00001
NM_001256789.3(CACNA1F):c.1087G>C (p.Val363Leu)
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001256789.3(CACNA1F):c.180G>A (p.Val60=)
NM_001256789.3(CACNA1F):c.198G>A (p.Gln66=)
NM_001256789.3(CACNA1F):c.2391GGA[6] (p.Glu814del) rs112450928
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001256789.3(CACNA1F):c.2674-7A>G
NM_001256789.3(CACNA1F):c.273G>A (p.Trp91Ter)
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3501G>A (p.Pro1167=) rs143720262
NM_001256789.3(CACNA1F):c.382-3dup
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576

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