ClinVar Miner

List of variants studied for Arts syndrome by OMIM

Included ClinVar conditions (2):

Arts syndrome
Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro)	rs80338675
NM_002764.4(PRPS1):c.424G>C (p.Val142Leu)	rs398122855
NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro)	rs80338676
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)	rs869025593

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