List of variants in gene combination LOC130006765, PTS reported as likely pathogenic by Baylor Genetics

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	rs104894274	0.00001
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)	rs2496560615
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624
NM_000317.3(PTS):c.83+1G>C	rs927103678

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