List of variants in gene PTS reported as pathogenic by OMIM

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.139A>G (p.Asn47Asp)	rs104894278	0.00003
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	rs104894276	0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	rs104894280	0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)	rs104894279	0.00001
NM_000317.3(PTS):c.361_374del (p.Val121fs)	rs794726656	0.00001
NM_000317.3(PTS):c.163+696_163+750del	rs1555198165
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.84-323A>T	rs794726657

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