ClinVar Miner

List of variants reported as likely pathogenic by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 11
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HGVS dbSNP
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000277.2(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000391.3(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000512.4(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_016327.2(UPB1):c.105-2A>G rs138081800
NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) rs200035428
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_152490.4(B3GALNT2):c.824_825dupTT (p.Ile276Leufs) rs367543075

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