ClinVar Miner

List of variants in gene LAMA3 reported as uncertain significance for Junctional epidermolysis bullosa, non-Herlitz type

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly) rs150364364 0.00019
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met) rs772651987
NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu) rs2145377026
NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu) rs2143574692

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