List of variants in gene PCNT reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)	rs60444527	0.18604
NM_006031.6(PCNT):c.8752-5A>C	rs149444205	0.00573
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)	rs139432601	0.00379
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)	rs138036524	0.00165
NM_006031.6(PCNT):c.623G>A (p.Arg208His)	rs142318247	0.00065
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)	rs59183158	0.00008
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del)	rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)	rs587784306
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)	rs200285580

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