ClinVar Miner

List of variants in gene LBR studied for Reynolds syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004

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