List of variants in gene PRPS1 reported by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.942C>T (p.Ser314=)	rs147731055	0.00058
NM_002764.4(PRPS1):c.876C>T (p.Ile292=)	rs202233161	0.00007
NM_002764.4(PRPS1):c.705-6C>T	rs199740956	0.00002
NM_002764.4(PRPS1):c.*685C>T
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp)	rs2147681484
NM_002764.4(PRPS1):c.25G>C (p.Gly9Arg)	rs1602893221
NM_002764.4(PRPS1):c.287G>A (p.Arg96Gln)	rs2147681509
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe)	rs1925561449
NM_002764.4(PRPS1):c.719G>A (p.Gly240Asp)	rs2147686021
NM_002764.4(PRPS1):c.74T>C (p.Leu25Pro)

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