ClinVar Miner

List of variants in gene LBR reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.-14-54G>A rs1340867 0.62460
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_002296.4(LBR):c.837+19T>A rs77316576 0.00170
NM_002296.4(LBR):c.927C>T (p.Ile309=) rs143164834 0.00037
NM_002296.4(LBR):c.951A>G (p.Val317=) rs199748938 0.00009
NM_002296.4(LBR):c.959A>G (p.His320Arg) rs201654506 0.00006
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_002296.4(LBR):c.851C>T (p.Thr284Met) rs371750924 0.00004
NM_002296.4(LBR):c.227G>A (p.Arg76Gln) rs749991297 0.00003
NM_002296.4(LBR):c.262G>A (p.Gly88Ser) rs754965227 0.00003
NM_002296.4(LBR):c.1130G>A (p.Arg377Gln) rs750036742 0.00001
NM_002296.4(LBR):c.-39G>C rs553408012
NM_002296.4(LBR):c.113C>T (p.Thr38Ile) rs555819295
NM_002296.4(LBR):c.1423T>A (p.Leu475Ile) rs1553395780
NM_002296.4(LBR):c.893-5del rs78306811
NM_002296.4(LBR):c.924C>T (p.Val308=) rs1558653035

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