List of variants in gene PPT1 reported by Mayo Clinic Laboratories, Mayo Clinic

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)	rs1800205	0.04289
NM_000310.4(PPT1):c.837G>C (p.Gln279His)	rs72937434	0.02506
NM_000310.4(PPT1):c.536+25T>C	rs16826876	0.00744
NM_000310.4(PPT1):c.363-18C>G	rs143235344	0.00531
NM_000310.4(PPT1):c.363-4G>A	rs117284255	0.00318
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	rs146902902	0.00091
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	rs137852695	0.00061
NM_000310.4(PPT1):c.799-19A>C	rs367820578	0.00046
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000310.4(PPT1):c.*6G>A	rs113082671	0.00006
NM_000310.4(PPT1):c.676G>A (p.Val226Met)	rs375190067	0.00003
NM_000310.4(PPT1):c.175del (p.Glu59fs)	rs386833635

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