ClinVar Miner

List of variants in gene LAMA4 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001105206.3(LAMA4):c.297+8G>A rs200595773 0.00075
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile) rs145648026 0.00072
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) rs3752580 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) rs147822567 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) rs137948709 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=) rs143728627 0.00002
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) rs397516734 0.00001
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.3111-18G>A rs80168443
NM_001105206.3(LAMA4):c.3296G>T (p.Arg1099Ile) rs1779337380
NM_001105206.3(LAMA4):c.3540A>G (p.Pro1180=) rs1412027193
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val) rs782225670

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