List of variants in gene MYL2 reported as likely pathogenic for cardiomyopathy

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)	rs143139258	0.00029
NM_000432.4(MYL2):c.403-1G>C	rs199474813	0.00004
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)	rs863225117	0.00001
NM_000432.4(MYL2):c.141del (p.Asn47fs)	rs2136774043
NM_000432.4(MYL2):c.163G>C (p.Ala55Pro)	rs727504425
NM_000432.4(MYL2):c.173G>T (p.Arg58Leu)	rs104894369
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)	rs397516398
NM_000432.4(MYL2):c.193G>T (p.Glu65Ter)	rs397516398
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)	rs587782965
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala)	rs397516399
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)	rs1064796377
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	rs1566147422
NM_000432.4(MYL2):c.482A>G (p.His161Arg)	rs727503296
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)	rs199474814
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu)	rs397516406
NM_000432.4(MYL2):c.485_487del (p.Gly162del)
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)	rs397516407
NM_000432.4(MYL2):c.491_495del (p.Glu164fs)	rs1592798444
NM_000432.4(MYL2):c.497A>T (p.Asp166Val)	rs199474815

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