List of variants in gene PNKP reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)	rs3739173	0.00047
NM_007254.4(PNKP):c.579-4G>A	rs371834726	0.00011
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly)	rs563918674	0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg)	rs567905136	0.00006
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr)	rs398124249	0.00001
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro)	rs781551273
NM_007254.4(PNKP):c.1170A>G (p.Gly390=)	rs1064796440
NM_007254.4(PNKP):c.1188+8del	rs763782151
NM_007254.4(PNKP):c.1217T>A (p.Val406Glu)	rs141938129
NM_007254.4(PNKP):c.1295_1298+20dup	rs2074766354
NM_007254.4(PNKP):c.1387-39del	rs2122317908
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer)	rs1443873131
NM_007254.4(PNKP):c.1510del (p.Arg504fs)	rs771489173
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)	rs587784367
NM_007254.4(PNKP):c.352A>T (p.Thr118Ser)	rs1414544372
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg)	rs751327913
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys)	rs755967508

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