ClinVar Miner

List of variants reported as likely pathogenic by GOSgene,University College London Great Ormond Street Institute of Child Health

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Total variants: 2
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HGVS dbSNP
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) rs1568149971
NM_198056.2(SCN5A):c.4856del (p.Pro1619fs)

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