ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2 by Athena Diagnostics Inc

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000530.6(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.7(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_002047.3(GARS):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.3(GARS):c.2095-6C>T rs2240401
NM_002047.3(GARS):c.222+5C>T rs2072236
NM_002047.3(GARS):c.93G>C (p.Leu31=) rs2529438
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166

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