List of variants in gene P3H1 reported as uncertain significance by GeneDx

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)	rs139259804	0.00103
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)	rs573577299	0.00068
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)	rs144336336	0.00066
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala)	rs138939786	0.00032
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile)	rs147423732	0.00008
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)	rs201750444	0.00007
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys)	rs150808079	0.00006
NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys)	rs565510744	0.00003
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile)	rs201020061	0.00002
NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly)	rs764935317	0.00001
NM_022356.4(P3H1):c.2042G>A (p.Arg681Gln)	rs575594548	0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg)	rs747865105	0.00001
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys)	rs746863189	0.00001
NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr)	rs149894086
NM_022356.4(P3H1):c.2076C>G (p.Asp692Glu)	rs1383357893
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
NM_022356.4(P3H1):c.64G>A (p.Ala22Thr)

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