ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Mendelics

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
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_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382

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