ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Athena Diagnostics Inc

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338

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