List of variants in gene combination LOC130006765, PTS reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)	rs765777664	0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	rs1317230624	0.00001
NM_000317.3(PTS):c.-24_9del	rs2135407114
NM_000317.3(PTS):c.1A>G (p.Met1Val)	rs2135407146
NM_000317.3(PTS):c.26G>A (p.Arg9His)	rs1213277062
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	rs1167104933
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)	rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273

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