ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739 0.00011
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008 0.00004
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646 0.00003
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) rs1026157995 0.00002
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) rs762795374 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.243G>A (p.Leu81=) rs1033918125 0.00001
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr) rs1302330903 0.00001
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) rs747543921 0.00001
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) rs771619672 0.00001
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) rs375747284
NM_053025.4(MYLK):c.124C>T (p.Leu42Phe)
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) rs1052992526
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.3167A>G (p.Asp1056Gly) rs1553803351
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4573G>A (p.Val1525Met)
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) rs777616795
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) rs1302244958
NM_053025.4(MYLK):c.848C>G (p.Ser283Trp)

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