List of variants in gene PCCA reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.1284+1G>A	rs752761437	0.00007
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)	rs141371306	0.00006
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	rs138149179	0.00003
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.2041-2A>G	rs776281864	0.00001
NM_000282.4(PCCA):c.231+1G>C	rs972937270	0.00001
NM_000282.4(PCCA):c.415-2A>C	rs746286209	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)	rs776821944
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)	rs2152894046
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)	rs202247814
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)	rs1555361758
NM_000282.4(PCCA):c.722del (p.Gly241fs)	rs745571507
NM_000282.4(PCCA):c.923dup (p.Leu308fs)	rs573607437

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