ClinVar Miner

List of variants in gene LAMA3 reported as likely benign for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 10
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HGVS dbSNP
NM_000227.5(LAMA3):c.1609G>A (p.Ala537Thr) rs146005577
NM_000227.5(LAMA3):c.2009-36_2009-16del rs1555734493
NM_000227.5(LAMA3):c.3201C>T (p.Asn1067=) rs35737354
NM_198129.3(LAMA3):c.7218C>T (p.Asp2406=) rs62093184
NM_198129.3(LAMA3):c.7797C>T (p.Asp2599=) rs61751706
NM_198129.3(LAMA3):c.7928G>T (p.Arg2643Leu) rs45516998
NM_198129.3(LAMA3):c.8576+7G>T rs1258107
NM_198129.3(LAMA3):c.8629C>T (p.His2877Tyr) rs35153125
NM_198129.3(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802
NM_198129.4(LAMA3):c.4998+1367G>A

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