ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Kariminejad - Najmabadi Pathology & Genetics Center

Included ClinVar conditions (137):
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ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) rs373919106
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) rs1586806110
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) rs765346218
NM_020956.2(PRX):c.*1295C>T rs144183238
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del) rs1565920164
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382

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