ClinVar Miner

List of variants studied for Arts syndrome by Baylor Genetics

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.179G>A (p.Cys60Tyr)
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	rs137852540
NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	rs137852541
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg)	rs1925733763

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