List of variants in gene PCCA reported as pathogenic by OMIM

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000282.4(PCCA):c.1285-1416A>G	rs1362195093
NM_000282.4(PCCA):c.1846-2_1852del	rs2152925644
NM_000282.4(PCCA):c.1899+2_1899+3insCT	rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter)	rs121964957

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