ClinVar Miner

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

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Total variants: 12
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NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272
NM_015166.3(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) rs1569290395
Single allele

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