ClinVar Miner

List of variants studied for Arts syndrome by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_002764.4(PRPS1):c.367C>G (p.His123Asp) rs2147682403
NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593

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