List of variants in gene PTS reported as likely pathogenic by Counsyl

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met)	rs200712908	0.00010
NM_000317.3(PTS):c.243_243+1dup	rs866922524	0.00003
NM_000317.3(PTS):c.84-3C>G	rs1230781262	0.00002
NM_000317.3(PTS):c.186+1G>T	rs1256819927	0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	rs765406631	0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	rs145882709	0.00001
NM_000317.3(PTS):c.315-1G>C	rs776543880	0.00001
NM_000317.3(PTS):c.164-2A>G	rs1555198233
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	rs770387277
NM_000317.3(PTS):c.227_228del (p.Leu76fs)	rs1555198263
NM_000317.3(PTS):c.244-1G>T	rs1555198451
NM_000317.3(PTS):c.314+1G>C	rs1555198462
NM_000317.3(PTS):c.315-2A>G	rs1555198483
NM_000317.3(PTS):c.337del (p.Tyr113fs)	rs1555198494
NM_000317.3(PTS):c.393del (p.Val132fs)	rs780332520

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