List of variants in gene PLCB1 reported as pathogenic for Developmental and epileptic encephalopathy, 12

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NC_000020.10:g.(?_8113279)_(8352117_?)del
NC_000020.10:g.(?_8113299)_(8352117_?)del
NC_000020.10:g.(?_8608931)_(8639361_?)del
NC_000020.10:g.(?_8639165)_(8698515_?)del
NC_000020.10:g.(?_8696891)_(8698515_?)del
NM_015192.4(PLCB1):c.1087del (p.Asp363fs)	rs2515247150
NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter)	rs1600278094
NM_015192.4(PLCB1):c.1678dup (p.Arg561fs)	rs2515281114
NM_015192.4(PLCB1):c.2155del (p.Gln719fs)	rs2515299378
NM_015192.4(PLCB1):c.2443C>T (p.Arg815Ter)
NM_015192.4(PLCB1):c.2666del (p.Lys889fs)	rs1981959745
NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)	rs2515347436
NM_015192.4(PLCB1):c.569del (p.Glu190fs)
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)	rs990536521
NM_015192.4(PLCB1):c.967del (p.Ser323fs)	rs2123399674

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