ClinVar Miner

List of variants in gene PLCB1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103

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