ClinVar Miner

List of variants in gene PRKCSH reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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_001289104.2(PRKCSH):c.850-14T>C	rs186375	0.99255
NM_001289104.2(PRKCSH):c.351-5C>T	rs76485217	0.00604
NM_001289104.2(PRKCSH):c.976G>A (p.Ala326Thr)	rs140014863	0.00110

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