ClinVar Miner

List of variants in gene CACNA1F reported by GeneDx

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.49233563= rs5906758 0.99896
NM_001256789.3(CACNA1F):c.4100+131G>C rs12009701 0.09780
NM_001256789.3(CACNA1F):c.1651+241A>G rs58793970 0.09695
NM_001256789.3(CACNA1F):c.818-302C>G rs7050910 0.09583
NM_001256789.3(CACNA1F):c.26-173C>G rs7066652 0.09508
NM_001256789.3(CACNA1F):c.2335-89C>T rs5906756 0.07887
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) rs33910054 0.06102
NM_001256789.3(CACNA1F):c.3236+55T>C rs7066236 0.05349
NM_001256789.3(CACNA1F):c.2929-172C>T rs111247255 0.05297
NM_001256789.3(CACNA1F):c.521+39C>T rs112130833 0.05292
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu) rs6520408 0.05244
NM_001256789.3(CACNA1F):c.26-182A>G rs11796927 0.05142
NM_001256789.3(CACNA1F):c.5670+69C>T rs61653156 0.04931
NM_001256789.3(CACNA1F):c.3597+44T>G rs7886686 0.04281
NM_001256789.3(CACNA1F):c.3237-71G>C rs73498062 0.04138
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.2335-138G>A rs56114689 0.03905
NM_001256789.3(CACNA1F):c.3597+131T>C rs147150039 0.02827
NM_001256789.3(CACNA1F):c.2734-62C>T rs113785888 0.02303
NM_001256789.3(CACNA1F):c.4953+22C>T rs185551369 0.00417
NM_001256789.3(CACNA1F):c.3089+41C>T rs149284900 0.00107
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_001256789.3(CACNA1F):c.2666G>A (p.Arg889His) rs139263092 0.00006
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg) rs782426237 0.00005
NM_001256789.3(CACNA1F):c.1276+39C>A rs1336441115 0.00003
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val) rs781938466 0.00002
NM_001256789.3(CACNA1F):c.3500C>T (p.Pro1167Leu) rs782564122 0.00002
NM_001256789.3(CACNA1F):c.148C>T (p.Arg50Ter) rs886039560 0.00001
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) rs1365490247 0.00001
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.1879C>T (p.His627Tyr) rs782485066 0.00001
NM_001256789.3(CACNA1F):c.2167G>A (p.Val723Met) rs1569528322 0.00001
NM_005183.4(CACNA1F):c.2932C>T (p.Arg978Ter) rs1557107966 0.00001
NM_001256789.3(CACNA1F):c.1042C>T (p.Pro348Ser) rs1085307793
NM_001256789.3(CACNA1F):c.1118+6=
NM_001256789.3(CACNA1F):c.1423G>A (p.Asp475Asn)
NM_001256789.3(CACNA1F):c.1809= (p.Gly603=)
NM_001256789.3(CACNA1F):c.1816C>T (p.Gln606Ter)
NM_001256789.3(CACNA1F):c.2101G>T (p.Asp701Tyr) rs2147913764
NM_001256789.3(CACNA1F):c.2289-202= rs2904024
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup) rs112450928
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.2544-3C>G rs1085307529
NM_001256789.3(CACNA1F):c.2647A>C (p.Ile883Leu) rs2147909595
NM_001256789.3(CACNA1F):c.2672A>T (p.His891Leu)
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) rs1064794711
NM_001256789.3(CACNA1F):c.3074C>T (p.Thr1025Ile)
NM_001256789.3(CACNA1F):c.3089+149dup rs11403487
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3146G>A (p.Arg1049Gln)
NM_001256789.3(CACNA1F):c.3237-16C>G rs190434065
NM_001256789.3(CACNA1F):c.3276= (p.His1092=)
NM_001256789.3(CACNA1F):c.3400G>T (p.Glu1134Ter) rs138447882
NM_001256789.3(CACNA1F):c.3438+5C>A rs2147902751
NM_001256789.3(CACNA1F):c.3597+212dup rs139742315
NM_001256789.3(CACNA1F):c.3597+24C>T
NM_001256789.3(CACNA1F):c.3633G>A (p.Met1211Ile)
NM_001256789.3(CACNA1F):c.3709-2A>C rs1057523895
NM_001256789.3(CACNA1F):c.4209_4215delinsAAATTTG (p.Ser1403_Phe1405delinsArgAsnLeu)
NM_001256789.3(CACNA1F):c.433A>G (p.Lys145Glu)
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs) rs1557105474
NM_001256789.3(CACNA1F):c.5020G>A (p.Asp1674Asn)
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001256789.3(CACNA1F):c.988G>A (p.Glu330Lys) rs2065843939
NM_005183.2(CACNA1F):c.276delG rs886041479

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