ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00007
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) rs782293373 0.00003
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) rs730880121 0.00001
NM_001105206.3(LAMA4):c.200G>A (p.Cys67Tyr) rs1239642838

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