ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro) rs1569215413
NM_001005373.4(LRSAM1):c.1102C>T (p.Gln368Ter) rs776814240
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn) rs1890124015
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs) rs1853955279
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter) rs200483634

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