ClinVar Miner

List of variants in gene MTMR2 studied for Charcot-Marie-Tooth disease type 4B1

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Total variants: 18
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HGVS dbSNP
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
NM_016156.5(MTMR2):c.1090C>T
NM_016156.5(MTMR2):c.1131C>T (p.Thr377=) rs566204
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1479+1G>A
NM_016156.5(MTMR2):c.1490dupC
NM_016156.5(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.570+11T>C rs182582445
NM_016156.5(MTMR2):c.80+13C>T rs139510268
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.5(MTMR2):c.883C>T
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874

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