ClinVar Miner

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

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
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_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855

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