ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa, non-Herlitz type by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_198129.4(LAMA3):c.9781A>G (p.Ser3261Gly) rs150364364 0.00019
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter) rs1181742615 0.00001
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter) rs1564684815
NM_198129.4(LAMA3):c.7228T>A (p.Leu2410Met) rs772651987

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