List of variants in gene PNKP reported as benign for brain disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.498+23A>T	rs1290649	0.39505
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.58C>T (p.Pro20Ser)	rs3739168	0.00946
NM_007254.4(PNKP):c.1127-8C>T	rs3739203	0.00901
NM_007254.4(PNKP):c.*15C>T	rs1050332	0.00609
NM_007254.4(PNKP):c.*21A>C	rs201872477	0.00444
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)	rs185452809	0.00406
NM_007254.4(PNKP):c.783G>A (p.Pro261=)	rs145307985	0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=)	rs149731642	0.00290
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)	rs146478958	0.00280
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)	rs142199280	0.00232
NM_007254.4(PNKP):c.579G>A (p.Arg193=)	rs145904995	0.00205
NM_007254.4(PNKP):c.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)	rs3739206	0.00181
NM_007254.4(PNKP):c.636+7G>A	rs3739187	0.00154
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)	rs116192442	0.00133
NM_007254.4(PNKP):c.501G>A (p.Val167=)	rs142143566	0.00071
NM_007254.4(PNKP):c.816+20C>T	rs372038893	0.00059
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	rs142180374	0.00051
NM_007254.4(PNKP):c.627G>A (p.Glu209=)	rs532550120	0.00040
NM_007254.4(PNKP):c.876A>G (p.Gly292=)	rs3739199	0.00033
NM_007254.4(PNKP):c.1387-11G>A	rs200785744	0.00006
NM_007254.4(PNKP):c.861G>C (p.Val287=)	rs75203375	0.00005
NM_007254.4(PNKP):c.1126+9C>T	rs3739202	0.00004
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)	rs549000007	0.00003
NM_007254.4(PNKP):c.564C>T (p.Gly188=)	rs574408360	0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val)	rs201258910	0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=)	rs571119317	0.00001
NM_007254.4(PNKP):c.1029+15C>G
NM_007254.4(PNKP):c.1030-12del	rs1398388252
NM_007254.4(PNKP):c.1127-7dup	rs757518270
NM_007254.4(PNKP):c.1189-22_1189-19del	rs368832563
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	rs376854895
NM_007254.4(PNKP):c.1387-48del	rs770848795
NM_007254.4(PNKP):c.1387-48dup	rs770848795
NM_007254.4(PNKP):c.1387-5del	rs1238643725
NM_007254.4(PNKP):c.1387-5dup	rs1238643725
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	rs3739185
NM_007254.4(PNKP):c.936+13dup	rs3739200

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