ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NC_000011.10:g.(?_112226434)_(112226536_?)del
NC_000011.10:g.(?_112226444)_(112233555_?)del
NC_000011.9:g.(?_112096088)_(112105696_?)del
NC_000011.9:g.(?_112097157)_(112104288_?)del
NC_000011.9:g.(?_112103876)_(112104288_?)del
NM_000317.3(PTS):c.107del (p.Asn36fs) rs1859894340
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter) rs781197929
NM_000317.3(PTS):c.163+696_163+750del rs1555198165
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
NM_000317.3(PTS):c.200C>A (p.Thr67Lys) rs370340361
NM_000317.3(PTS):c.236_239del (p.Tyr79fs) rs1399026048
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.243G>A (p.Glu81=) rs2135409211
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.272A>G (p.Lys91Arg) rs761285716
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.314+2T>C rs2135410340
NM_000317.3(PTS):c.315-1G>A
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
NM_000317.3(PTS):c.331G>A (p.Ala111Thr) rs1367077861
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
NM_000317.3(PTS):c.379C>T (p.Leu127Phe) rs1859971515
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter) rs1859971691
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter) rs199603175
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.84-323A>T rs794726657
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)

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