ClinVar Miner

List of variants in gene CACNA1F reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
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.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=) rs138189763 0.00415
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.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) rs141521080 0.00088
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00086
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001256789.3(CACNA1F):c.272G>T (p.Trp91Leu) rs782478480 0.00002
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) rs1365490247 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His) rs781936182 0.00001
NM_001256789.3(CACNA1F):c.571C>G (p.Pro191Ala) rs781815938 0.00001
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup) 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.2461C>T (p.Leu821Phe) rs1005399568
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys) rs886044865
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3263A>G (p.Tyr1088Cys) rs886044907
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576
NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp) rs139409733
NM_001256789.3(CACNA1F):c.5154C>A (p.Ile1718=) rs782565109
NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly) rs924041421

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