ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258 0.00169
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332 0.00018
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154 0.00009
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val) rs777617840 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser) rs200943355 0.00003
NM_021098.3(CACNA1H):c.2907+10G>A rs781264742 0.00002
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) rs557125328 0.00002
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) rs761025927 0.00001
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr) rs1056058034 0.00001
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) rs772141645 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val) rs774604155 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) rs747326278 0.00001
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) rs753307543
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) rs2141260547
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.3154+5G>C rs764360814
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.4039-10C>A rs764056510
NM_021098.3(CACNA1H):c.412-5C>G rs577701046
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) rs1966873069
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) rs369689966
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu) rs772154386
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702

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