ClinVar Miner

List of variants in gene combination LOC130006765, PTS studied for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

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Total variants: 45
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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 0.00005
NM_000317.3(PTS):c.11A>G (p.Glu4Gly) rs1210641460 0.00001
NM_000317.3(PTS):c.22C>T (p.Arg8Cys) rs1859865574 0.00001
NM_000317.3(PTS):c.24T>C (p.Arg8=) rs1275795738 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.47G>A (p.Arg16His) rs1222623614 0.00001
NM_000317.3(PTS):c.48C>T (p.Arg16=) rs1859866135 0.00001
NM_000317.3(PTS):c.66G>A (p.Ala22=) rs1859866331 0.00001
NM_000317.3(PTS):c.71A>C (p.His24Pro) rs1474586656 0.00001
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter) rs765777664 0.00001
NM_000317.3(PTS):c.76T>C (p.Leu26=) rs1405554143 0.00001
NM_000317.3(PTS):c.83+5G>A rs746134820 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.21C>T (p.Gly7=) rs2135407159
NM_000317.3(PTS):c.23_27dup (p.Cys10fs) rs2496560615
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.31C>G (p.Gln11Glu)
NM_000317.3(PTS):c.34G>C (p.Ala12Pro)
NM_000317.3(PTS):c.36A>G (p.Ala12=) rs2135407170
NM_000317.3(PTS):c.3G>T (p.Met1Ile) rs2496560570
NM_000317.3(PTS):c.53T>A (p.Ile18Asn)
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=) rs2496560710
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=) rs1415472667
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624
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 rs2496560809
NM_000317.3(PTS):c.83+12A>C rs775612634
NM_000317.3(PTS):c.83+12A>G rs775612634
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.83+1G>C rs927103678
NM_000317.3(PTS):c.83+5G>T rs746134820
NM_000317.3(PTS):c.83+9T>C rs2135407218
NM_000317.3(PTS):c.83+9T>G rs2135407218
NM_000317.3(PTS):c.9G>A (p.Thr3=) rs1460470110

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