ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_000228.3(LAMB3):c.2137+37G>A rs374527059
NM_000228.3(LAMB3):c.628+42G>A rs587776812
NM_005562.3(LAMC2):c.3328+19_3328+25del rs747693187
NM_005562.3(LAMC2):c.3328+8AACCCAC[3] rs747693187
NM_005562.3(LAMC2):c.503+14G>A rs372097432
NM_198129.3(LAMA3):c.6836-36_6836-16del rs1555734493
NM_198129.3(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802

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