ClinVar Miner

List of variants in gene MYLK reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_053025.4(MYLK):c.1785C>T (p.Ser595=) rs370094325 0.00029
NM_053025.4(MYLK):c.249C>T (p.Cys83=) rs149179973 0.00023
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) rs373556266 0.00017
NM_053025.4(MYLK):c.3681C>T (p.Ala1227=) rs201663473 0.00015
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) rs370194660 0.00009
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) rs147536036 0.00007
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550 0.00006
NM_053025.4(MYLK):c.3537G>A (p.Ala1179=) rs375256466 0.00006
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) rs141546581 0.00004
NM_053025.4(MYLK):c.2076G>A (p.Thr692=) rs147295583 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_053025.4(MYLK):c.1008G>A (p.Pro336=) rs143682943 0.00002
NM_053025.4(MYLK):c.4656C>T (p.Asp1552=) rs749367561 0.00002
NM_053025.4(MYLK):c.3315A>G (p.Gln1105=) rs1576620303 0.00001
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2304C>T (p.Phe768=) rs1560108139
NM_053025.4(MYLK):c.2617C>T (p.Leu873=) rs1466712472
NM_053025.4(MYLK):c.4896G>C (p.Val1632=) rs2058710543
NM_053025.4(MYLK):c.5460T>G (p.Val1820=)
NM_053025.4(MYLK):c.5619C>T (p.Cys1873=)
NM_053025.4(MYLK):c.600A>C (p.Pro200=)
NM_053025.4(MYLK):c.885G>A (p.Lys295=) rs1230223829

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