ClinVar Miner

Variants in gene LAMB1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn) rs142386151 0.00147
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln) rs115518856 0.00126
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00054
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722 0.00043
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met) rs142742847 0.00022
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys) rs139568495 0.00015
NM_002291.3(LAMB1):c.4746-3C>A rs200654865 0.00012
NM_002291.3(LAMB1):c.5225-8C>A rs778153007 0.00009
NM_002291.3(LAMB1):c.3391+4A>C rs766051911 0.00004
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=) rs780369106
NM_002291.3(LAMB1):c.3077G>A (p.Arg1026Gln) rs193010498

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