ClinVar Miner

List of variants reported as likely pathogenic by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

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Total variants: 4
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HGVS dbSNP
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596

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