ClinVar Miner

List of variants reported as likely pathogenic by Biochemistry Laboratory of CDMU,Chengde Medical University

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Total variants: 19
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HGVS dbSNP
NC_000005.9:g.175843728_180703728dup
NC_000006.11:g.162966301_170914973del
NC_000007.13:g.72682338_74141250del
NC_000008.10:g.12546855_35816855dup
NC_000008.10:g.155001_6955001del
NC_000015.9:g.22751194_23251194del
NC_000021.8:g.43010560_48093051dup
NC_000022.10:g.46794432_51139778del
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)
NM_001271208.1(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_004208.3(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005006.6(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272
NM_015166.3(MLC1):c.833A>G (p.Tyr278Cys)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_033056.3(PCDH15):c.4306_4308CCG[7] (p.Pro1443_Gly1444insProPro) rs559130985
NM_033056.3(PCDH15):c.5245_5271del (p.Pro1752_Pro1760del) rs767526540
NM_153252.4(BRWD3):c.256G>A (p.Glu86Lys)

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