List of variants in gene PRPS1 reported by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)	rs61735617	0.00632
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)	rs80338730	0.00068
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)	rs147731055	0.00058
NM_002764.4(PRPS1):c.573G>A (p.Leu191=)	rs770518315	0.00035
NM_002764.4(PRPS1):c.288G>A (p.Arg96=)	rs752194539	0.00005
NM_002764.4(PRPS1):c.444G>A (p.Glu148=)	rs201285459	0.00003
NM_002764.4(PRPS1):c.60T>C (p.Ala20=)	rs756853882	0.00002
NM_002764.4(PRPS1):c.705-6C>T	rs199740956	0.00002
NM_002764.4(PRPS1):c.177T>A (p.Gly59=)	rs147896410	0.00001
NM_002764.4(PRPS1):c.219G>A (p.Met73Ile)
NM_002764.4(PRPS1):c.307-2A>G	rs1556299881
NM_002764.4(PRPS1):c.336T>C (p.Val112=)
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	rs137852540
NM_002764.4(PRPS1):c.456A>C (p.Leu152=)	rs61735617
NM_002764.4(PRPS1):c.530+1G>A	rs1556300197
NM_002764.4(PRPS1):c.705-4C>T	rs1925730100
NM_002764.4(PRPS1):c.721G>A (p.Ala241Thr)

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