List of variants in gene PCNT reported as pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter)	rs777830265
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)	rs587784302
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter)	rs119479063
NM_006031.6(PCNT):c.398del (p.Phe133fs)	rs1131691484
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs)	rs1064793985
NM_006031.6(PCNT):c.6899del (p.His2300fs)
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter)	rs749426946
NM_006031.6(PCNT):c.9535dup (p.Val3179fs)	rs747058622

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