List of variants in gene PLCB1 reported as likely pathogenic for complex neurodevelopmental disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_015192.4(PLCB1):c.1168-1G>A	rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs)	rs1568577135
NM_015192.4(PLCB1):c.2208+1G>A	rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C	rs2123290747
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)	rs990536521
NM_015192.4(PLCB1):c.862+1G>A

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