List of variants in gene MYLK reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.1517-2A>G	rs770709606	0.00002
NM_053025.4(MYLK):c.2390+1G>A	rs762794821	0.00002
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)	rs761508149	0.00001
NM_053025.4(MYLK):c.1341G>A (p.Trp447Ter)	rs2108787283
NM_053025.4(MYLK):c.2190del (p.Thr731fs)	rs2108636142
NM_053025.4(MYLK):c.241_244dup (p.Asp82fs)	rs2108881184
NM_053025.4(MYLK):c.2608C>T (p.Arg870Ter)	rs865903260
NM_053025.4(MYLK):c.3504C>A (p.Tyr1168Ter)	rs1255387521

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