List of variants in gene P3H1 reported as pathogenic for not provided

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_022356.4(P3H1):c.1080+1G>T	rs72659351	0.00068
NM_022356.4(P3H1):c.2055+18G>A	rs137853890	0.00003
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter)	rs72659347	0.00001
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter)	rs118203996
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)	rs140468248
NM_022356.4(P3H1):c.1346-1G>C	rs886042897
NM_022356.4(P3H1):c.1569+1G>A	rs369651701
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	rs1652551021

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