List of variants in gene PLCE1 reported as pathogenic for not provided

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_016341.4(PLCE1):c.1339C>T (p.Arg447Ter)	rs781068774	0.00001
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter)	rs121912601	0.00001
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter)	rs548655036	0.00001
NM_016341.4(PLCE1):c.5890C>T (p.Arg1964Ter)	rs775052849	0.00001
NC_000010.10:g.(?_96068318)_(96076533_?)del
NM_016341.4(PLCE1):c.2872_2873del (p.Val958fs)
NM_016341.4(PLCE1):c.3169C>T (p.Arg1057Ter)
NM_016341.4(PLCE1):c.3338_3339del (p.Lys1113fs)	rs918508213
NM_016341.4(PLCE1):c.3736C>T (p.Arg1246Ter)	rs267606955
NM_016341.4(PLCE1):c.4192dup (p.Leu1398fs)	rs750815297
NM_016341.4(PLCE1):c.4809del (p.Asp1604fs)
NM_016341.4(PLCE1):c.4978_4981del (p.Gln1660fs)	rs1589475328
NM_016341.4(PLCE1):c.5979del (p.Gly1994fs)

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