ClinVar Miner

List of variants reported as likely pathogenic by Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades

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Total variants: 13
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NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg)
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) rs1569017160
NM_004975.4(KCNB1):c.1144G>A (p.Asp382Asn) rs1555889090
NM_004975.4(KCNB1):c.1180G>A (p.Gly394Arg) rs1569017073
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) rs1569017025
NM_004975.4(KCNB1):c.128A>G (p.Glu43Gly) rs1568658507
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) rs1569016820
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741

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