ClinVar Miner

List of variants in gene LAMB3 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg) rs532875477 0.00002
NM_000228.3(LAMB3):c.1597+1G>T rs1553277072 0.00001
NM_000228.3(LAMB3):c.628+1G>A rs1057516539 0.00001
NC_000001.10:g.(?_209803072)_(209812003_?)dup
NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser) rs1085307994
NM_000228.3(LAMB3):c.1132+1G>A
NM_000228.3(LAMB3):c.1133-2A>G
NM_000228.3(LAMB3):c.1289-2A>G
NM_000228.3(LAMB3):c.1485+1G>C rs2102423955
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1597+1G>A rs1553277072
NM_000228.3(LAMB3):c.183+1G>A
NM_000228.3(LAMB3):c.184-1G>A rs2102446425
NM_000228.3(LAMB3):c.1976+1G>A
NM_000228.3(LAMB3):c.1977-1G>A rs786205451
NM_000228.3(LAMB3):c.2137+1G>T rs2102416154
NM_000228.3(LAMB3):c.2137+2T>A
NM_000228.3(LAMB3):c.2138-1G>A rs1666304645
NM_000228.3(LAMB3):c.2557-1G>C rs2102413223
NM_000228.3(LAMB3):c.2685_2701+2del rs1571803654
NM_000228.3(LAMB3):c.2701+2T>C
NM_000228.3(LAMB3):c.28+1G>T rs113077137
NM_000228.3(LAMB3):c.29-2A>G rs371267954
NM_000228.3(LAMB3):c.298+1G>A
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
NM_000228.3(LAMB3):c.372+1G>C rs1553279044
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
NM_000228.3(LAMB3):c.564+1G>A
NM_000228.3(LAMB3):c.622del (p.Ile208fs) rs768303931
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
NM_000228.3(LAMB3):c.943+1G>A rs1666645866
NM_000228.3(LAMB3):c.943+1G>C rs1666645866
NM_000228.3(LAMB3):c.943+2T>G rs1464038626

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