List of variants in gene P3H1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)	rs533729683	0.00038
NM_022356.4(P3H1):c.1721-4C>T	rs200901466	0.00015
NM_022356.4(P3H1):c.689C>T (p.Ala230Val)	rs369342678	0.00013
NM_022356.4(P3H1):c.1068C>T (p.Ile356=)	rs373669933	0.00011
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)	rs770943260	0.00006
NM_022356.4(P3H1):c.1910T>A (p.Val637Glu)	rs1385918597	0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)	rs771006240	0.00003
NM_022356.4(P3H1):c.852G>A (p.Thr284=)	rs765846480	0.00002
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe)	rs1344810292	0.00001
NM_022356.4(P3H1):c.1221G>A (p.Gln407=)	rs886043833
NM_022356.4(P3H1):c.1523C>G (p.Thr508Ser)	rs759787229

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