ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by GeneReviews

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338

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