ClinVar Miner

List of variants in gene DHX38, LOC126862391 studied for retinitis pigmentosa 84

Included ClinVar conditions (1):

Retinitis pigmentosa 84

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln)	rs543465915	0.00003
NM_014003.4(DHX38):c.3056del (p.Lys1019fs)
NM_014003.4(DHX38):c.3193G>C (p.Asp1065His)	rs752923486

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