ClinVar Miner

List of variants in gene PLCB1 reported as uncertain significance by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00003
NM_015192.4(PLCB1):c.1543G>A (p.Asp515Asn) rs745450384 0.00002
NM_015192.4(PLCB1):c.2731G>A (p.Glu911Lys) rs1364886743 0.00001
NM_015192.4(PLCB1):c.1195G>A (p.Ala399Thr)
NM_015192.4(PLCB1):c.1465A>G (p.Thr489Ala)
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.175A>G (p.Lys59Glu) rs2123032627
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2468G>A (p.Arg823Lys)
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.3029A>C (p.Asp1010Ala) rs2146203884
NM_015192.4(PLCB1):c.3343G>A (p.Glu1115Lys)
NM_015192.4(PLCB1):c.3639_3640dup (p.Thr1214fs)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867

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