ClinVar Miner

List of variants in gene CACNA1H reported as uncertain significance by New York Genome Center

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211 0.00009
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096 0.00009
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) rs762600701 0.00001
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) rs747598216 0.00001
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) rs1003957584 0.00001
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) rs779602893 0.00001
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) rs1450545207
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) rs774463255
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala)
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) rs2141413125

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