List of variants in gene MYLK reported as pathogenic for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys)	rs143468713	0.00001
NC_000003.11:g.(?_123332952)_(123386054_?)del
NM_053025.4(MYLK):c.2390+1G>C	rs762794821
NM_053025.4(MYLK):c.2814_2815del (p.Val938_Ser939insTer)
NM_053025.4(MYLK):c.2824G>T (p.Glu942Ter)
NM_053025.4(MYLK):c.2965A>T (p.Lys989Ter)
NM_053025.4(MYLK):c.3072dup (p.Pro1025fs)
NM_053025.4(MYLK):c.3231C>A (p.Cys1077Ter)	rs2108578389
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs)	rs1553803235
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs)	rs2108576783
NM_053025.4(MYLK):c.3652_3652+1del	rs1553795301
NM_053025.4(MYLK):c.3715del (p.Gln1239fs)	rs2059732940
NM_053025.4(MYLK):c.3751_3752del (p.Ala1251fs)	rs2108340106
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter)	rs1382893400
NM_053025.4(MYLK):c.3876_3937del (p.Ser1293fs)
NM_053025.4(MYLK):c.3967dup (p.Val1323fs)
NM_053025.4(MYLK):c.4001dup (p.Ala1335fs)	rs1553785222
NM_053025.4(MYLK):c.4093_4094del (p.Ser1365fs)	rs2108273583
NM_053025.4(MYLK):c.4114del (p.Asp1372fs)	rs2108273387
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter)	rs1553781304
NM_053025.4(MYLK):c.4404_4407del (p.Glu1468fs)
NM_053025.4(MYLK):c.4422del (p.Lys1474fs)	rs2059058650
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter)	rs387906782
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter)	rs886229659
NM_053025.4(MYLK):c.4470G>A (p.Trp1490Ter)	rs1047937861
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser)	rs1576422965
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs)	rs1060502531
NM_053025.4(MYLK):c.5169del (p.Lys1724fs)	rs2107974888
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro)	rs387906781

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