List of variants in gene PCNT reported by OMIM

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_006031.6(PCNT):c.3465-1G>A	rs755084205	0.00001
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His)	rs1569239749	0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)	rs119479062	0.00001
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter)	rs119479064	0.00001
NM_006031.6(PCNT):c.1528dup (p.Thr510fs)	rs1369869782
NM_006031.6(PCNT):c.1887del (p.Ala630fs)	rs397509366
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter)	rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter)	rs387906928
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs)	rs397514033
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)	rs119479061
NM_006031.6(PCNT):c.844dup (p.Glu282fs)	rs1601795448
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del)	rs2148093442
PCNT, 486-BP DEL, NT84

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