ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Mendelics

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met) rs368463825
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
NM_018972.4(GDAP1):c.674_676GAA[1] (p.Arg226del) rs1586806238
NM_138361.5(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150

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