ClinVar Miner

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

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902 0.00004
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) rs373919106
NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del) rs1565920164
NM_018972.4(GDAP1):c.602A>G (p.Asn201Ser) rs1586806110
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382

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