ClinVar Miner

List of variants in gene LAMA4 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
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.5344C>T (p.Arg1782Cys) rs145897390 0.00046
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.456T>A (p.Ala152=) rs149106800 0.00022
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) rs200017155 0.00019
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.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001105206.3(LAMA4):c.2494-13T>C rs576422943 0.00002
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=) rs143728627 0.00002
NM_001105206.3(LAMA4):c.815-13G>A rs372004668 0.00002
NM_001105206.3(LAMA4):c.3036T>C (p.Asn1012=) rs797037404
NM_001105206.3(LAMA4):c.3540A>G (p.Pro1180=) rs1412027193
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val) rs782225670

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