ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease by Athena Diagnostics Inc

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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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_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
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_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_016156.5(MTMR2):c.1131C>T (p.Thr377=) rs566204
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_181882.2(PRX):c.1216G>A (p.Ala406Thr) rs117336941
NM_181882.2(PRX):c.1483G>C (p.Glu495Gln) rs146789340
NM_181882.2(PRX):c.2655T>C (p.Pro885=) rs268672
NM_181882.2(PRX):c.2763A>G (p.Ile921Met) rs268673
NM_181882.2(PRX):c.3248C>G (p.Pro1083Arg) rs3745202
NM_181882.2(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657

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