List of variants in gene PNKP reported as likely pathogenic by Invitae

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	rs372148913	0.00005
NM_007254.4(PNKP):c.636+1G>T	rs1247055716	0.00004
NM_007254.4(PNKP):c.1387-2A>G	rs766419491	0.00002
NM_007254.4(PNKP):c.865+1G>A	rs762003634	0.00002
NM_007254.4(PNKP):c.1188+1G>A	rs1057518102	0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del	rs1568658916	0.00001
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A	rs149614720
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)	rs376854895
NM_007254.4(PNKP):c.1386+1G>C	rs1057520630
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G	rs1391913873
NM_007254.4(PNKP):c.636+1G>C	rs1247055716
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.865+1G>T

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