ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Fulgent Genetics

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000263.3(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.3(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000304.3(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.3(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000530.6(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001257374.2(LMNA):c.1420G>A (p.Val474Met) rs758048062
NM_001376.4(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.4(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.4(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.4(DYNC1H1):c.9607G>A (p.Val3203Met)
NM_001540.4(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) rs142850278
NM_002047.3(GARS):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.3(GARS):c.262C>G (p.Gln88Glu) rs201728920
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207
NM_002972.3(SBF1):c.2605G>A (p.Val869Met) rs200365973
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_004208.3(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004990.3(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val) rs374848403
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) rs200243596
NM_018972.3(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168
NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_025137.3(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396
NM_025137.3(SPG11):c.5471G>A (p.Arg1824Gln)
NM_025137.3(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219
NM_025137.3(SPG11):c.604A>G (p.Met202Val) rs201875705
NM_025137.3(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030973.3(MED25):c.1438C>G (p.Leu480Val) rs148214958
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_170707.3(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.3(LMNA):c.1381-5G>A rs730880133
NM_181882.2(PRX):c.1546C>T (p.Arg516Trp) rs144305922
NM_181882.2(PRX):c.3769G>A (p.Gly1257Arg) rs200332462

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