ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Institute of Human Genetics,Cologne University

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) rs1601814238
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026

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