ClinVar Miner

List of variants reported as likely pathogenic by Robert's Program, Boston Children's Hospital

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_001165963.4(SCN1A):c.182T>C (p.Leu61Pro) rs1553560766
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val) rs1697296215
NM_001165963.4(SCN1A):c.4357T>G (p.Tyr1453Asp) rs2105476794
NM_001242896.3(DEPDC5):c.2105-1G>A rs781125997
NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter) rs2148968418
NM_198904.4(GABRG2):c.327+1G>A rs2113309482

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