ClinVar Miner

List of variants in gene PNKP reported as not provided by MutSpliceDB: a database of splice sites variants effects on splicing, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.152-8A>G	rs751424212	0.00001
NM_007254.4(PNKP):c.637-1G>T	rs2122334749

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