ClinVar Miner

List of variants studied for centronuclear myopathy by Myriad Genetics, Inc.

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870

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