List of variants in gene PNKP reported 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
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1189-10del	rs3739205	0.02593
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)	rs3739186	0.01081
NM_007254.4(PNKP):c.783G>A (p.Pro261=)	rs145307985	0.00353
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.1029+2T>C	rs199919568	0.00115
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.968C>T (p.Thr323Met)	rs372148913	0.00005
NM_007254.4(PNKP):c.1126+9C>T	rs3739202	0.00004
NM_007254.4(PNKP):c.636+1G>T	rs1247055716	0.00004
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.1286_1298+6dup	rs760249644
NM_007254.4(PNKP):c.1288_1298+6dup	rs1555810844
NM_007254.4(PNKP):c.1387-26T>G
NM_007254.4(PNKP):c.1387-48dup	rs770848795
NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter)	rs760131892
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
NM_007254.4(PNKP):c.916_917del (p.Phe306fs)	rs2074784617

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