ClinVar Miner

List of variants in gene CACNA2D2 reported as pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000003.11:g.(?_50513539)_(50540854_?)del
NM_006030.4(CACNA2D2):c.1017del (p.Ser340fs)
NM_006030.4(CACNA2D2):c.107_177del (p.Pro36fs)
NM_006030.4(CACNA2D2):c.1162_1165del (p.Thr388fs)
NM_006030.4(CACNA2D2):c.1269_1270del (p.Phe424fs)
NM_006030.4(CACNA2D2):c.1298_1299del (p.Asn432_Tyr433insTer)
NM_006030.4(CACNA2D2):c.1387C>T (p.Gln463Ter)
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter) rs1559887808
NM_006030.4(CACNA2D2):c.1837del (p.Leu613fs)
NM_006030.4(CACNA2D2):c.1905C>G (p.Tyr635Ter)
NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs) rs1559884460
NM_006030.4(CACNA2D2):c.1996del (p.Leu666fs)
NM_006030.4(CACNA2D2):c.235C>T (p.Gln79Ter)
NM_006030.4(CACNA2D2):c.235dup (p.Gln79fs) rs2107090466
NM_006030.4(CACNA2D2):c.353del (p.Lys118fs)
NM_006030.4(CACNA2D2):c.409_413dup (p.Asp139fs)
NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) rs1060503108
NM_006030.4(CACNA2D2):c.82del (p.His28fs)
NM_006030.4(CACNA2D2):c.843G>A (p.Trp281Ter) rs1553730120
NM_006030.4(CACNA2D2):c.851dup (p.Ala286fs) rs1575603683
NM_006030.4(CACNA2D2):c.871_872del (p.Asp291fs) rs2106664189
NM_006030.4(CACNA2D2):c.97_103dup (p.Arg35fs) rs1451909068

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