ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00064
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu) rs762042274 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) rs1803053166 0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243 0.00001
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) rs1670288209
NM_000530.8(MPZ):c.234+5G>A
NM_001127173.3(CADM3):c.383del rs2525599145
NM_001303256.3(MORC2):c.996G>T (p.Leu332Phe) rs769996010
NM_001365088.1(SLC12A6):c.1843G>C (p.Ala615Pro) rs2509780518
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile) rs2048613478
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu) rs866647743
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys) rs2486888017
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_018082.6(POLR3B):c.1757C>T (p.Ser586Phe) rs2542118888
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_022489.4(INF2):c.2406C>G (p.His802Gln) rs1453244138

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