List of variants in gene PNKP studied for Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4

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.416G>A (p.Arg139His)	rs34472250	0.00185
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)	rs201503405	0.00061
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)	rs768567927	0.00006
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly)	rs886043128	0.00003
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)	rs763116781	0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)	rs766655539	0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln)	rs770823063	0.00001
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys)	rs768567927
NM_007254.4(PNKP):c.1298+2T>A
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln)	rs1568663138
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)	rs200611702
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp)	rs775762473

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