ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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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_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
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_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058

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