List of variants in gene PNKP reported as likely benign by PreventionGenetics, part of Exact Sciences

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)	rs142199280	0.00232
NM_007254.4(PNKP):c.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.831G>A (p.Thr277=)	rs148491228	0.00128
NM_007254.4(PNKP):c.501G>A (p.Val167=)	rs142143566	0.00071
NM_007254.4(PNKP):c.1299-6C>T	rs112635688	0.00067
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	rs201503405	0.00061
NM_007254.4(PNKP):c.1386+41_1386+42del	rs765720389	0.00030
NM_007254.4(PNKP):c.1281C>T (p.Asp427=)	rs770775129	0.00019
NM_007254.4(PNKP):c.198+9G>A	rs370222304	0.00019
NM_007254.4(PNKP):c.1413T>C (p.His471=)	rs370017666	0.00016
NM_007254.4(PNKP):c.1298+6G>A	rs578207030	0.00010
NM_007254.4(PNKP):c.885C>T (p.Ala295=)	rs763725051	0.00010
NM_007254.4(PNKP):c.1554C>T (p.Phe518=)	rs541143958	0.00002
NM_007254.4(PNKP):c.1260C>T (p.Ala420=)
NM_007254.4(PNKP):c.1387-26T>G
NM_007254.4(PNKP):c.1387-48dup	rs770848795
NM_007254.4(PNKP):c.304C>T (p.Leu102=)
NM_007254.4(PNKP):c.499-9T>C
NM_007254.4(PNKP):c.867C>T (p.Asp289=)	rs771239062

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