List of variants in gene PLCB1 studied for Early Infantile Epileptic Encephalopathy, Autosomal Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T	rs2327089	0.89617
NM_015192.4(PLCB1):c.*1681T>C	rs1047381	0.74584
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=)	rs2235613	0.62539
NM_015192.4(PLCB1):c.*2510C>T	rs1047383	0.55952
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.102C>T (p.Asp34=)	rs16994453	0.18027
NM_015192.4(PLCB1):c.1251-4T>G	rs2076689	0.09450
NM_015192.4(PLCB1):c.*942G>A	rs41275594	0.06967
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=)	rs3761170	0.05661
NM_015192.4(PLCB1):c.99+8T>C	rs6086350	0.04369
NM_015192.4(PLCB1):c.*1798T>G	rs73089700	0.03493
NM_015192.4(PLCB1):c.*1670C>T	rs41275598	0.03141
NM_015192.4(PLCB1):c.*97A>G	rs41275590	0.02442
NM_182734.2(PLCB1):c.*3300C>A	rs114229570	0.01610
NM_015192.4(PLCB1):c.178-15G>A	rs6055775	0.01196
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)	rs61755434	0.00997
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)	rs45464693	0.00730
NM_015192.4(PLCB1):c.2309-15A>C	rs117816042	0.00563
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)	rs45608240	0.00391
NM_015192.4(PLCB1):c.*961A>G	rs563566757	0.00095
NM_015192.4(PLCB1):c.*1434A>G	rs886056976	0.00056
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)	rs184436336	0.00030
NM_015192.4(PLCB1):c.*2880A>G	rs578032279	0.00016
NM_015192.4(PLCB1):c.*42C>T	rs368625100	0.00010
NM_015192.4(PLCB1):c.695+10C>G	rs763454386	0.00006
NM_015192.4(PLCB1):c.*1707A>G	rs708910
NM_015192.4(PLCB1):c.1954_1957del	rs78940282
NM_015192.4(PLCB1):c.2030_2033del	rs564631750
NM_015192.4(PLCB1):c.*2096GAA[2]	rs140743311
NM_015192.4(PLCB1):c.2307_2310dup	rs886056979
NM_015192.4(PLCB1):c.378_380dup	rs147873196
NM_015192.4(PLCB1):c.*93del	rs146432082

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