List of variants in gene POC1A 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)	rs372247136	0.00004
NM_015426.5(POC1A):c.1A>G (p.Met1Val)	rs747094191	0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)	rs397514487	0.00001
NC_000003.11:g.(?_52172193)_(52212093_?)del
NC_000003.11:g.(?_52188351)_(52188388_?)del
NM_015426.5(POC1A):c.2T>C (p.Met1Thr)	rs1488104140
NM_015426.5(POC1A):c.707_708del (p.Ser236fs)	rs772586602
NM_015426.5(POC1A):c.729C>G (p.Tyr243Ter)	rs1203995886

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