ClinVar Miner

List of variants in gene MYLK reported as likely benign for Connective tissue disorder

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Total variants: 27
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HGVS dbSNP
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.1189A>G (p.Lys397Glu) rs1553822326
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.4(MYLK):c.1651+14G>A
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.4(MYLK):c.3652+7A>G rs1553795288
NM_053025.4(MYLK):c.373+14G>A rs1553833648
NM_053025.4(MYLK):c.3832-4C>T rs778116028
NM_053025.4(MYLK):c.3832-6C>T rs185681684
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met)
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686
NM_053025.4(MYLK):c.4308G>A (p.Glu1436=) rs1442217314
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)
NM_053025.4(MYLK):c.5114+8G>A rs202229368
NM_053025.4(MYLK):c.5238+12G>T
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.4(MYLK):c.672C>T (p.Asn224=) rs941148082
NM_053025.4(MYLK):c.755-12C>T rs138877679
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn) rs755451013

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