ClinVar Miner

List of variants in gene PRPS1 reported as benign for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792

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