List of variants in gene PCNT reported by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)	rs869312917	0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)	rs869312929	0.00001
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs)	rs1131691484
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)	rs587784308
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)

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