ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 25
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.*518G>A rs754573556
NM_001127221.1(CACNA1A):c.1468T>C (p.Tyr490His) rs1568528172
NM_001127221.1(CACNA1A):c.1693G>A (p.Glu565Lys) rs1057519099
NM_001127221.1(CACNA1A):c.1742T>A (p.Val581Glu) rs1064797233
NM_001127221.1(CACNA1A):c.1812C>T (p.Val604=) rs560241650
NM_001127221.1(CACNA1A):c.2323T>C (p.Trp775Arg) rs1568509826
NM_001127221.1(CACNA1A):c.2524G>T (p.Ala842Ser) rs1057522204
NM_001127221.1(CACNA1A):c.2585_2602del (p.Gln862_Asp867del) rs767951499
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.3178C>T (p.Pro1060Ser)
NM_001127221.1(CACNA1A):c.3239C>A (p.Ala1080Asp) rs1064797232
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3486G>A (p.Arg1162=) rs772768681
NM_001127221.1(CACNA1A):c.3550G>A (p.Val1184Ile) rs373224251
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3894C>T (p.Asp1298=) rs1555749519
NM_001127221.1(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) rs1057519100
NM_001127221.1(CACNA1A):c.5471T>C (p.Leu1824Pro) rs1057521706
NM_001127221.1(CACNA1A):c.6004C>T (p.Pro2002Ser) rs751947412
NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met) rs563345694
NM_001127221.1(CACNA1A):c.6234C>A (p.Asp2078Glu) rs751515136
NM_001127221.1(CACNA1A):c.6238G>A (p.Glu2080Lys) rs752513542
NM_001127221.1(CACNA1A):c.6455_6466del (p.His2152_Arg2155del) rs1469809752
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6640C>T (p.His2214Tyr) rs1555730624

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