ClinVar Miner

List of variants in gene CACNA2D1 reported as uncertain significance for Brugada syndrome

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000722.3(CACNA2D1):c.2141+10_2141+13delTGTT rs773095610
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618
NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del) rs1554349582
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile) rs1477267428
NM_000722.4(CACNA2D1):c.1609C>G (p.Pro537Ala) rs1554345090
NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln)
NM_000722.4(CACNA2D1):c.1993A>G (p.Thr665Ala) rs780901801
NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met) rs1554333986
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met) rs745501384
NM_000722.4(CACNA2D1):c.2238A>G (p.Thr746=) rs192741898
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu) rs202108848
NM_000722.4(CACNA2D1):c.2334G>A (p.Ser778=) rs368512946
NM_000722.4(CACNA2D1):c.2513G>T (p.Cys838Phe)
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His)
NM_000722.4(CACNA2D1):c.2760G>C (p.Trp920Cys)
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser) rs139608070
NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile) rs1218449046
NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs) rs1554327285
NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu)
NM_000722.4(CACNA2D1):c.318A>G (p.Lys106=) rs757313687
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met) rs756765026
NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser) rs869025369
NM_000722.4(CACNA2D1):c.457G>A (p.Ala153Thr) rs1163800062
NM_000722.4(CACNA2D1):c.45A>G (p.Gln15=) rs771243374
NM_000722.4(CACNA2D1):c.527-3T>C rs1554398187
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His)
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=)
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His) rs141238313
NM_000722.4(CACNA2D1):c.95+1G>A rs1554560384
NM_000722.4(CACNA2D1):c.969T>A (p.Asn323Lys) rs1060503151

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