List of variants in gene LOC130006765, PTS studied for autosomal recessive disease

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.17G>T (p.Gly6Val)	rs138154701	0.00031
NM_000317.3(PTS):c.83+10G>C	rs372809628	0.00004
NM_000317.3(PTS):c.22C>T (p.Arg8Cys)	rs1859865574	0.00001
NM_000317.3(PTS):c.45C>T (p.Ser15=)	rs756084052	0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	rs104894274	0.00001
NM_000317.3(PTS):c.66G>A (p.Ala22=)	rs1859866331	0.00001
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.11A>G (p.Glu4Gly)
NM_000317.3(PTS):c.1A>G (p.Met1Val)	rs2135407146
NM_000317.3(PTS):c.21C>T (p.Gly7=)	rs2135407159
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
NM_000317.3(PTS):c.24T>C (p.Arg8=)
NM_000317.3(PTS):c.26G>A (p.Arg9His)	rs1213277062
NM_000317.3(PTS):c.2T>G (p.Met1Arg)	rs1859865221
NM_000317.3(PTS):c.36A>G (p.Ala12=)	rs2135407170
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
NM_000317.3(PTS):c.47G>A (p.Arg16His)
NM_000317.3(PTS):c.48C>T (p.Arg16=)
NM_000317.3(PTS):c.54C>A (p.Ile18=)	rs749133827
NM_000317.3(PTS):c.57C>T (p.Ser19=)	rs2135407185
NM_000317.3(PTS):c.63C>T (p.Ser21=)
NM_000317.3(PTS):c.65C>G (p.Ala22Gly)	rs2135407190
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
NM_000317.3(PTS):c.75A>T (p.Arg25=)
NM_000317.3(PTS):c.76T>C (p.Leu26=)
NM_000317.3(PTS):c.83+10G>A	rs372809628
NM_000317.3(PTS):c.83+10G>T	rs372809628
NM_000317.3(PTS):c.83+11C>T
NM_000317.3(PTS):c.83+12A>C
NM_000317.3(PTS):c.83+12A>G
NM_000317.3(PTS):c.83+1G>A	rs927103678
NM_000317.3(PTS):c.83+1G>C
NM_000317.3(PTS):c.83+5G>A
NM_000317.3(PTS):c.83+5G>T
NM_000317.3(PTS):c.83+9T>C
NM_000317.3(PTS):c.83+9T>G	rs2135407218
NM_000317.3(PTS):c.9G>A (p.Thr3=)	rs1460470110

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