ClinVar Miner

List of variants in gene MYLK2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 0.00006
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.-13G>A rs397517470 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033118.4(MYLK2):c.1112T>C (p.Ile371Thr) rs727505336 0.00001
NM_033118.4(MYLK2):c.1016A>G (p.His339Arg) rs397517471
NM_033118.4(MYLK2):c.1669C>G (p.Gln557Glu) rs763971356
NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg) rs727503302
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.277C>A (p.Pro93Thr) rs397517473
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.802C>T (p.Pro268Ser) rs397517475

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