ClinVar Miner

List of variants in gene LAMB3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) rs52814161 0.01066
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494 0.00363
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_000228.3(LAMB3):c.548G>A (p.Arg183His) rs150895872 0.00088
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.547C>T (p.Arg183Cys) rs116124880 0.00038
NM_000228.3(LAMB3):c.3434C>T (p.Ala1145Val) rs750121518 0.00006
NM_000228.3(LAMB3):c.2831A>G (p.Asn944Ser) rs567776263 0.00004
NM_000228.3(LAMB3):c.1680C>T (p.Thr560=) rs376183751 0.00002
NM_000228.3(LAMB3):c.2556+7G>A rs201280220 0.00002
NM_000228.3(LAMB3):c.1189G>A (p.Gly397Arg)
NM_000228.3(LAMB3):c.1257A>T (p.Gly419=) rs1037697537
NM_000228.3(LAMB3):c.2666G>A (p.Arg889Gln)
NM_000228.3(LAMB3):c.2962C>A (p.Arg988=) rs2229467
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897

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