ClinVar Miner

List of variants in gene CACNA1F reported as pathogenic for not provided

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Total variants: 67
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HGVS dbSNP gnomAD frequency
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.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) rs782034481 0.00001
NM_005183.4(CACNA1F):c.2932C>T (p.Arg978Ter) rs1557107966 0.00001
NC_000023.10:g.(?_49074194)_(49077559_?)del
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.1130dup (p.Glu378fs)
NM_001256789.3(CACNA1F):c.1171C>T (p.Gln391Ter)
NM_001256789.3(CACNA1F):c.1234G>T (p.Glu412Ter) rs781837189
NM_001256789.3(CACNA1F):c.135del (p.Thr47fs)
NM_001256789.3(CACNA1F):c.1407_1408del (p.Glu469fs) rs2147919032
NM_001256789.3(CACNA1F):c.1456_1457insCACAC (p.Arg486fs)
NM_001256789.3(CACNA1F):c.1624C>T (p.Gln542Ter)
NM_001256789.3(CACNA1F):c.1678_1681del (p.Leu560fs) rs2147916854
NM_001256789.3(CACNA1F):c.1761C>A (p.Cys587Ter)
NM_001256789.3(CACNA1F):c.1816C>T (p.Gln606Ter)
NM_001256789.3(CACNA1F):c.1955del (p.Leu652fs)
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001256789.3(CACNA1F):c.2086-2A>C
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) rs1602644716
NM_001256789.3(CACNA1F):c.2234T>C (p.Ile745Thr) rs122456136
NM_001256789.3(CACNA1F):c.2416G>T (p.Glu806Ter) rs2147910339
NM_001256789.3(CACNA1F):c.2533C>T (p.Gln845Ter) rs2147910114
NM_001256789.3(CACNA1F):c.2616dup (p.Ser873fs) rs2147909707
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2791_2792del (p.Met931fs) rs1602639528
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter) rs2065740868
NM_001256789.3(CACNA1F):c.2928+1G>A rs2147908102
NM_001256789.3(CACNA1F):c.2998C>T (p.Gln1000Ter)
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3048C>A (p.Tyr1016Ter)
NM_001256789.3(CACNA1F):c.3088_3089+2del
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3225del (p.Gly1076fs) rs2147904608
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.3371del (p.Phe1124fs)
NM_001256789.3(CACNA1F):c.3400G>T (p.Glu1134Ter) rs138447882
NM_001256789.3(CACNA1F):c.3403C>T (p.Gln1135Ter)
NM_001256789.3(CACNA1F):c.3478dup (p.Arg1160fs)
NM_001256789.3(CACNA1F):c.3854del (p.Arg1285fs)
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) rs2065670611
NM_001256789.3(CACNA1F):c.3927del (p.Phe1309fs)
NM_001256789.3(CACNA1F):c.396C>G (p.Tyr132Ter) rs2065872186
NM_001256789.3(CACNA1F):c.4260+1G>A rs2147897025
NM_001256789.3(CACNA1F):c.4260+2del rs2065655753
NM_001256789.3(CACNA1F):c.498_502del (p.Asp167fs)
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs) rs1557105474
NM_001256789.3(CACNA1F):c.5187del (p.Gln1732fs) rs2147891252
NM_001256789.3(CACNA1F):c.5198dup (p.Asn1733fs)
NM_001256789.3(CACNA1F):c.5299C>T (p.Gln1767Ter)
NM_001256789.3(CACNA1F):c.544C>T (p.Gln182Ter)
NM_001256789.3(CACNA1F):c.5481G>A (p.Trp1827Ter) rs2065589645
NM_001256789.3(CACNA1F):c.553G>T (p.Gly185Ter)
NM_001256789.3(CACNA1F):c.584dup (p.Pro197fs) rs1557111077
NM_001256789.3(CACNA1F):c.693_699dup (p.Leu234fs)
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_001256789.3(CACNA1F):c.823del (p.Glu275fs) rs2147921791
NM_001256789.3(CACNA1F):c.850_853del (p.Ala284fs)
NM_001256789.3(CACNA1F):c.897C>A (p.Cys299Ter) rs2065845144
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_005183.2(CACNA1F):c.276delG rs886041479

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