ClinVar Miner

List of variants in gene MYO6 reported as pathogenic for not provided

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter) rs766700803 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.2974C>T (p.Gln992Ter) rs1778981404 0.00001
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) rs121912558 0.00001
GRCh37/hg19 6q14.1(chr6:76545618-76545673)x1
NM_004999.4(MYO6):c.1125del (p.Cys375fs)
NM_004999.4(MYO6):c.1452_1453insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTCTTCAACAATTTTTT (p.Asn485delinsPhePhePhePhePhePheXaaXaaXaaXaaGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluSerSerThrIlePheTer)
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter) rs2149312917
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_004999.4(MYO6):c.2117dup (p.Ser707fs)
NM_004999.4(MYO6):c.2240dup (p.Asn747fs)
NM_004999.4(MYO6):c.2287-2A>G rs2149347420
NM_004999.4(MYO6):c.2473C>T (p.Arg825Ter)
NM_004999.4(MYO6):c.2544dup (p.Arg849fs)
NM_004999.4(MYO6):c.256del (p.Ile86fs)
NM_004999.4(MYO6):c.2571_2574del (p.Ser858fs) rs2149359004
NM_004999.4(MYO6):c.2692del (p.Glu898fs)
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.2761G>T (p.Glu921Ter) rs770092845
NM_004999.4(MYO6):c.2800G>T (p.Glu934Ter)
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.2867+1G>A rs2149368227
NM_004999.4(MYO6):c.3040dup (p.Leu1014fs)
NM_004999.4(MYO6):c.3256_3257dup (p.Asp1087fs) rs2149415255
NM_004999.4(MYO6):c.3376del (p.Thr1126fs)
NM_004999.4(MYO6):c.344_345del (p.Tyr115fs) rs1554204415
NM_004999.4(MYO6):c.554-1G>A
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.790_795delinsAA (p.His264fs) rs1554207040
NM_004999.4(MYO6):c.854_855del (p.Lys285fs)
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357

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