List of variants in gene PNKP reported by Athena Diagnostics Inc

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1127-8C>T	rs3739203	0.00901
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.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)	rs142180374	0.00051
NM_007254.4(PNKP):c.1062C>T (p.Leu354=)	rs142830558	0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)	rs753116883	0.00006
NM_007254.4(PNKP):c.789G>A (p.Thr263=)	rs768661843	0.00003
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)	rs376854895
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	rs3739185

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