ClinVar Miner

List of variants in gene LBR reported as uncertain significance for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_002296.4(LBR):c.312C>T (p.Ala104=) rs146953852 0.00041
NM_002296.4(LBR):c.561C>T (p.Tyr187=) rs151100686 0.00019
NM_002296.4(LBR):c.1315-8C>T rs369094974 0.00015
NM_002296.4(LBR):c.991C>T (p.Leu331Phe) rs201609720 0.00008
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.908T>A (p.Ile303Asn) rs1165682529 0.00001
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser) rs372250618
NM_002296.4(LBR):c.218C>G (p.Ser73Cys) rs773644529
NM_002296.4(LBR):c.629G>T (p.Gly210Val) rs565288775

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