ClinVar Miner

List of variants reported as likely pathogenic by Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center

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Total variants: 8
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HGVS dbSNP
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro) rs724159951
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_005650.3(TCF20):c.2508_2511GACT[1] (p.Asp838fs)
NM_005650.3(TCF20):c.4943del (p.Thr1648fs) rs1569143903
NM_172171.2(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627

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