ClinVar Miner

List of variants in gene PRPS1 studied for Charcot-Marie-Tooth Neuropathy X

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00614
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00033
NM_002764.4(PRPS1):c.876C>T (p.Ile292=) rs202233161 0.00007
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00005
NM_002764.4(PRPS1):c.530+18A>G rs377525200 0.00005
NM_002764.4(PRPS1):c.864+10A>G rs200767443 0.00005
NM_002764.4(PRPS1):c.870T>C (p.Ile290=) rs754068855 0.00005
NM_002764.4(PRPS1):c.924C>T (p.Ser308=) rs757207081 0.00005
NM_002764.4(PRPS1):c.454C>T (p.Leu152=) rs772838760 0.00004
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_002764.4(PRPS1):c.315G>A (p.Ala105=) rs768455048 0.00003
NM_002764.4(PRPS1):c.406-20G>C rs781524630 0.00003
NM_002764.4(PRPS1):c.420C>T (p.Ile140=) rs373971736 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_002764.4(PRPS1):c.705-16C>T rs752513486 0.00003
NM_002764.4(PRPS1):c.135T>C (p.Gly45=) rs1925520913 0.00002
NM_002764.4(PRPS1):c.248G>T (p.Ser83Ile) rs767243595 0.00002
NM_002764.4(PRPS1):c.249C>T (p.Ser83=) rs750054054 0.00002
NM_002764.4(PRPS1):c.705-6C>T rs199740956 0.00002
NM_002764.4(PRPS1):c.858A>G (p.Lys286=) rs775162729 0.00002
NM_002764.4(PRPS1):c.111C>T (p.Asn37=) rs1327637315 0.00001
NM_002764.4(PRPS1):c.122+13T>C rs750791916 0.00001
NM_002764.4(PRPS1):c.123-6T>C rs1226197511 0.00001
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) rs752590804 0.00001
NM_002764.4(PRPS1):c.177T>A (p.Gly59=) rs147896410 0.00001
NM_002764.4(PRPS1):c.183C>T (p.Gly61=) rs371538576 0.00001
NM_002764.4(PRPS1):c.24C>T (p.Ser8=) rs754682838 0.00001
NM_002764.4(PRPS1):c.261A>C (p.Ala87=) rs755850703 0.00001
NM_002764.4(PRPS1):c.348A>G (p.Leu116=) rs774382720 0.00001
NM_002764.4(PRPS1):c.393T>G (p.Ala131=) rs1925561331 0.00001
NM_002764.4(PRPS1):c.405+7G>A rs2521339638 0.00001
NM_002764.4(PRPS1):c.433T>C (p.Leu145=) rs768454424 0.00001
NM_002764.4(PRPS1):c.459G>A (p.Lys153=) rs1396476426 0.00001
NM_002764.4(PRPS1):c.499A>G (p.Ile167Val) rs759133840 0.00001
NM_002764.4(PRPS1):c.530+15A>T rs374847355 0.00001
NM_002764.4(PRPS1):c.530+19T>C rs1249519151 0.00001
NM_002764.4(PRPS1):c.531-14G>A rs755451906 0.00001
NM_002764.4(PRPS1):c.531-19A>T rs373152693 0.00001
NM_002764.4(PRPS1):c.60T>C (p.Ala20=) rs756853882 0.00001
NM_002764.4(PRPS1):c.63C>T (p.Asp21=) rs1273852823 0.00001
NM_002764.4(PRPS1):c.660T>C (p.Asp220=) rs759163993 0.00001
NM_002764.4(PRPS1):c.675T>C (p.Thr225=) rs1808179281 0.00001
NM_002764.4(PRPS1):c.771T>C (p.Ala257=) rs1201162820 0.00001
NM_002764.4(PRPS1):c.789C>T (p.Asn263=) rs1210109668 0.00001
NM_002764.4(PRPS1):c.78G>A (p.Glu26=) rs1215685426 0.00001
NM_002764.4(PRPS1):c.805G>T (p.Val269Leu) rs1241819619 0.00001
NM_002764.4(PRPS1):c.807A>C (p.Val269=) rs1461313913 0.00001
NM_002764.4(PRPS1):c.840G>A (p.Lys280=) rs769464194 0.00001
NM_002764.4(PRPS1):c.864+18G>C rs768956879 0.00001
NM_002764.4(PRPS1):c.864+7A>T rs1158691577 0.00001
NM_002764.4(PRPS1):c.868A>G (p.Ile290Val) rs1229690158 0.00001
NC_000023.10:g.(?_106871839)_(106893282_?)dup
NC_000023.10:g.(?_106871849)_(106893272_?)dup
NC_000023.10:g.(?_106871859)_(106872000_?)dup
NM_002764.4(PRPS1):c.117G>A (p.Glu39=)
NM_002764.4(PRPS1):c.120C>T (p.Thr40=) rs2521317943
NM_002764.4(PRPS1):c.122+10A>G rs2147674828
NM_002764.4(PRPS1):c.122+11A>G rs1260660802
NM_002764.4(PRPS1):c.122+11A>T rs1260660802
NM_002764.4(PRPS1):c.122+15G>A
NM_002764.4(PRPS1):c.122+16G>A rs756583830
NM_002764.4(PRPS1):c.122+17G>A rs2521318016
NM_002764.4(PRPS1):c.122+18A>G rs2521318020
NM_002764.4(PRPS1):c.122+1G>A
NM_002764.4(PRPS1):c.123-11C>A
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.123-4G>A rs2147681376
NM_002764.4(PRPS1):c.143T>C (p.Val48Ala) rs2147681393
NM_002764.4(PRPS1):c.146G>A (p.Arg49His)
NM_002764.4(PRPS1):c.149G>A (p.Gly50Glu) rs2147681403
NM_002764.4(PRPS1):c.168T>C (p.Val56=) rs2147681415
NM_002764.4(PRPS1):c.171G>A (p.Gln57=) rs2147681418
NM_002764.4(PRPS1):c.173G>A (p.Ser58Asn) rs2521336548
NM_002764.4(PRPS1):c.176G>T (p.Gly59Val)
NM_002764.4(PRPS1):c.180T>C (p.Cys60=) rs2147681429
NM_002764.4(PRPS1):c.183C>A (p.Gly61=) rs371538576
NM_002764.4(PRPS1):c.190A>G (p.Asn64Asp) rs2147681443
NM_002764.4(PRPS1):c.191A>T (p.Asn64Ile) rs2521336593
NM_002764.4(PRPS1):c.228C>A (p.Ala76=) rs1243920916
NM_002764.4(PRPS1):c.228C>T (p.Ala76=) rs1243920916
NM_002764.4(PRPS1):c.247A>T (p.Ser83Cys) rs876661263
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp) rs2147681484
NM_002764.4(PRPS1):c.252G>A (p.Arg84=) rs983928739
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.264C>A (p.Val88=) rs2521336752
NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu) rs2521336760
NM_002764.4(PRPS1):c.270A>C (p.Pro90=) rs766786656
NM_002764.4(PRPS1):c.270A>T (p.Pro90=) rs766786656
NM_002764.4(PRPS1):c.272G>A (p.Cys91Tyr) rs1602900770
NM_002764.4(PRPS1):c.273C>T (p.Cys91=)
NM_002764.4(PRPS1):c.27C>T (p.Gly9=) rs2521317750
NM_002764.4(PRPS1):c.282T>C (p.Tyr94=) rs1925523363
NM_002764.4(PRPS1):c.285C>G (p.Ala95=)
NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp) rs2521336794
NM_002764.4(PRPS1):c.287G>A (p.Arg96Gln) rs2147681509
NM_002764.4(PRPS1):c.293A>T (p.Asp98Val)
NM_002764.4(PRPS1):c.306+17A>T rs1925524303
NM_002764.4(PRPS1):c.306+7G>A rs2147681528
NM_002764.4(PRPS1):c.307-14T>C rs2521339351
NM_002764.4(PRPS1):c.307-6A>G rs2521339389
NM_002764.4(PRPS1):c.307-8C>T rs749164598
NM_002764.4(PRPS1):c.316C>A (p.Pro106Thr) rs2147682369
NM_002764.4(PRPS1):c.319A>G (p.Ile107Val) rs879253919
NM_002764.4(PRPS1):c.333T>G (p.Leu111=) rs2521339444
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.4(PRPS1):c.348A>C (p.Leu116=) rs774382720
NM_002764.4(PRPS1):c.357A>C (p.Ala119=) rs2521339512
NM_002764.4(PRPS1):c.366T>C (p.Asp122=) rs2521339553
NM_002764.4(PRPS1):c.378C>T (p.Thr126=) rs2521339560
NM_002764.4(PRPS1):c.382G>C (p.Asp128His) rs2521339566
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val) rs2147682409
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe) rs1925561449
NM_002764.4(PRPS1):c.39G>A (p.Gln13=) rs1775976722
NM_002764.4(PRPS1):c.402T>G (p.Ile134Met)
NM_002764.4(PRPS1):c.405+13G>A rs1158816793
NM_002764.4(PRPS1):c.405+14C>T rs1569438508
NM_002764.4(PRPS1):c.406-14G>C rs2521341886
NM_002764.4(PRPS1):c.406-15A>C rs2147683166
NM_002764.4(PRPS1):c.406-17C>A rs1182689736
NM_002764.4(PRPS1):c.406-4A>G rs1357998300
NM_002764.4(PRPS1):c.406-9T>C
NM_002764.4(PRPS1):c.420C>A (p.Ile140=) rs373971736
NM_002764.4(PRPS1):c.435G>A (p.Leu145=) rs2521341951
NM_002764.4(PRPS1):c.43T>C (p.Leu15=) rs1602893240
NM_002764.4(PRPS1):c.441A>G (p.Ala147=) rs2147683179
NM_002764.4(PRPS1):c.447G>T (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.450T>C (p.Ala150=) rs2521341990
NM_002764.4(PRPS1):c.456A>C (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.45A>C (p.Leu15Phe)
NM_002764.4(PRPS1):c.462G>A (p.Trp154Ter) rs2521342044
NM_002764.4(PRPS1):c.471G>A (p.Glu157=) rs2521342058
NM_002764.4(PRPS1):c.480T>C (p.Ser160=) rs1925595117
NM_002764.4(PRPS1):c.480T>G (p.Ser160=)
NM_002764.4(PRPS1):c.492C>T (p.Asn164=) rs776308065
NM_002764.4(PRPS1):c.497C>T (p.Thr166Ile) rs888601981
NM_002764.4(PRPS1):c.506C>T (p.Ser169Leu) rs2521342152
NM_002764.4(PRPS1):c.508C>T (p.Pro170Ser) rs1925595833
NM_002764.4(PRPS1):c.511G>T (p.Asp171Tyr) rs2147683220
NM_002764.4(PRPS1):c.514G>A (p.Ala172Thr) rs2521342171
NM_002764.4(PRPS1):c.519T>A (p.Gly173=) rs1404588042
NM_002764.4(PRPS1):c.519T>G (p.Gly173=) rs1404588042
NM_002764.4(PRPS1):c.530+10A>G rs1602902959
NM_002764.4(PRPS1):c.530+14_530+17dup rs2521342211
NM_002764.4(PRPS1):c.530+19T>G rs1249519151
NM_002764.4(PRPS1):c.531-11_531-10del rs746434896
NM_002764.4(PRPS1):c.531-15C>A rs200259438
NM_002764.4(PRPS1):c.531-15C>T rs200259438
NM_002764.4(PRPS1):c.531-18A>G
NM_002764.4(PRPS1):c.531-9G>C rs2147684756
NM_002764.4(PRPS1):c.54A>G (p.Lys18=) rs751085506
NM_002764.4(PRPS1):c.555G>A (p.Leu185=) rs1925664708
NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer) rs2521345872
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp) rs1556300610
NM_002764.4(PRPS1):c.587G>A (p.Arg196Gln) rs2147684782
NM_002764.4(PRPS1):c.594G>A (p.Lys198=) rs377602345
NM_002764.4(PRPS1):c.600T>C (p.Asn200=) rs2521345921
NM_002764.4(PRPS1):c.610C>T (p.Arg204Cys) rs1925666328
NM_002764.4(PRPS1):c.612C>T (p.Arg204=) rs2521345955
NM_002764.4(PRPS1):c.621del (p.Val208fs) rs2147684810
NM_002764.4(PRPS1):c.624G>A (p.Val208=) rs2521345966
NM_002764.4(PRPS1):c.630T>C (p.Asp210=) rs2147684811
NM_002764.4(PRPS1):c.639T>C (p.Asp213=) rs2521345969
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) rs867288458
NM_002764.4(PRPS1):c.643G>A (p.Val215Met)
NM_002764.4(PRPS1):c.646G>A (p.Ala216Thr) rs2521346005
NM_002764.4(PRPS1):c.661G>A (p.Asp221Asn)
NM_002764.4(PRPS1):c.668C>T (p.Ala223Val) rs2521346023
NM_002764.4(PRPS1):c.671A>G (p.Asp224Gly) rs2147684832
NM_002764.4(PRPS1):c.672C>T (p.Asp224=) rs2521346030
NM_002764.4(PRPS1):c.673A>G (p.Thr225Ala) rs2147684835
NM_002764.4(PRPS1):c.681C>T (p.Gly227=) rs2521346045
NM_002764.4(PRPS1):c.688T>C (p.Cys230Arg) rs2521346050
NM_002764.4(PRPS1):c.693T>C (p.His231=) rs2147684853
NM_002764.4(PRPS1):c.69G>A (p.Leu23=) rs1925240689
NM_002764.4(PRPS1):c.700_702del (p.Asp234del) rs2521346068
NM_002764.4(PRPS1):c.704+6del
NM_002764.4(PRPS1):c.704+8T>A rs1202786082
NM_002764.4(PRPS1):c.705-4C>T rs1925730100
NM_002764.4(PRPS1):c.705-5T>A rs2521349403
NM_002764.4(PRPS1):c.705-9dup rs768297199
NM_002764.4(PRPS1):c.717T>G (p.Ala239=) rs2521349439
NM_002764.4(PRPS1):c.727A>C (p.Arg243=) rs2521349496
NM_002764.4(PRPS1):c.732T>G (p.Val244=) rs1925730397
NM_002764.4(PRPS1):c.753A>G (p.Gly251=) rs2521349543
NM_002764.4(PRPS1):c.755TCT[1] (p.Phe253del) rs2521349580
NM_002764.4(PRPS1):c.758T>A (p.Phe253Tyr) rs2521349596
NM_002764.4(PRPS1):c.759C>T (p.Phe253=) rs757148256
NM_002764.4(PRPS1):c.762C>T (p.Ser254=) rs780750403
NM_002764.4(PRPS1):c.769G>A (p.Ala257Thr) rs2147686040
NM_002764.4(PRPS1):c.778C>T (p.Arg260Cys) rs2521349642
NM_002764.4(PRPS1):c.779G>A (p.Arg260His) rs1131691495
NM_002764.4(PRPS1):c.785A>G (p.Asn262Ser) rs921320056
NM_002764.4(PRPS1):c.786C>T (p.Asn262=) rs2521349716
NM_002764.4(PRPS1):c.796T>C (p.Phe266Leu) rs2521349744
NM_002764.4(PRPS1):c.79C>T (p.Leu27=) rs1925241044
NM_002764.4(PRPS1):c.807A>G (p.Val269=) rs1461313913
NM_002764.4(PRPS1):c.810A>C (p.Val270=) rs1304635289
NM_002764.4(PRPS1):c.817A>G (p.Asn273Asp)
NM_002764.4(PRPS1):c.827C>A (p.Pro276His) rs1925733148
NM_002764.4(PRPS1):c.829C>G (p.Gln277Glu) rs2147686093
NM_002764.4(PRPS1):c.834G>A (p.Glu278=) rs2521349872
NM_002764.4(PRPS1):c.864+23del rs1925735471
NM_002764.4(PRPS1):c.864+9G>C rs2147686124
NM_002764.4(PRPS1):c.865-14T>C rs766514496
NM_002764.4(PRPS1):c.865-19T>C rs1247472816
NM_002764.4(PRPS1):c.865-19T>G rs1247472816
NM_002764.4(PRPS1):c.865-20T>G rs2521353771
NM_002764.4(PRPS1):c.867G>A (p.Val289=) rs2147687440
NM_002764.4(PRPS1):c.874A>G (p.Ile292Val)
NM_002764.4(PRPS1):c.87G>A (p.Lys29=) rs2521317867
NM_002764.4(PRPS1):c.89T>A (p.Val30Glu) rs2521317881
NM_002764.4(PRPS1):c.900C>T (p.Ile300=) rs1602908140
NM_002764.4(PRPS1):c.908C>T (p.Thr303Ile) rs2521353910
NM_002764.4(PRPS1):c.925G>A (p.Val309Ile) rs587781263
NM_002764.4(PRPS1):c.934C>T (p.Leu312=) rs2521353965
NM_002764.4(PRPS1):c.936A>G (p.Leu312=) rs2521353971
NM_002764.4(PRPS1):c.940A>T (p.Ser314Cys) rs2521353977
NM_002764.4(PRPS1):c.945T>C (p.His315=) rs2147687490
NM_002764.4(PRPS1):c.948C>T (p.Val316=) rs2147687492
NM_002764.4(PRPS1):c.96T>C (p.Thr32=) rs2521317910
NM_002764.4(PRPS1):c.99G>A (p.Lys33=) rs1602893298

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