ClinVar Miner

List of variants reported as likely pathogenic by Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health

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Total variants: 8
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HGVS dbSNP
NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs) rs886040968
NM_001294335.2(ADGRB2):c.4393C>T (p.Arg1465Trp) rs778361520
NM_006302.3(MOGS):c.329G>A (p.Arg110His) rs863225089
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_020198.3(CCDC47):c.1145del (p.Leu382fs) rs750123815
NM_020198.3(CCDC47):c.1165del (p.Ser389fs) rs1568246398
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) rs1269750663
NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter) rs749027804

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