List of variants in gene PPT1 reported as uncertain significance by Counsyl

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_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	rs386833640	0.00002
NM_000310.4(PPT1):c.529_530insATCG	rs1475500814	0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.521_532dup	rs1553166026
NM_000310.4(PPT1):c.529_530insAGCA	rs1553166029
NM_000310.4(PPT1):c.529_530insGTCA	rs1553166030
NM_000310.4(PPT1):c.175_177del (p.Glu59del)	rs1553167495

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