ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa gravis of Herlitz by Integrated Genetics/Laboratory Corporation of America

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Total variants: 8
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HGVS dbSNP
NM_000227.4(LAMA3):c.4684+1G>A rs1296034886
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.2(LAMB3):c.463dupT (p.Ser155Phefs) rs776537364
NM_000228.2(LAMB3):c.565-2A>G rs370148688
NM_000228.3(LAMB3):c.29dup (p.Leu11Profs)
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345Lysfs) rs1553277702
NM_005562.2(LAMC2):c.1066+1G>T

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