ClinVar Miner

List of variants in gene CACNA2D2 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006030.4(CACNA2D2):c.1340-2A>G rs2106654236
NM_006030.4(CACNA2D2):c.1389+2T>C rs1575601202
NM_006030.4(CACNA2D2):c.1390-1G>C rs2106652662
NM_006030.4(CACNA2D2):c.1774-2A>G rs2106640384
NM_006030.4(CACNA2D2):c.1845+1G>T rs1704944478
NM_006030.4(CACNA2D2):c.2045+1G>A rs2109421369
NM_006030.4(CACNA2D2):c.206_206+34del rs2107204955
NM_006030.4(CACNA2D2):c.466-1G>C rs2106702374
NM_006030.4(CACNA2D2):c.784+1G>C rs1705277912
NM_006030.4(CACNA2D2):c.784+2T>G
NM_006030.4(CACNA2D2):c.842+1G>A rs1705258881

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