ClinVar Miner

List of variants reported as uncertain significance for Peters plus syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.*813A>G rs148632976 0.00271
NM_194318.4(B3GLCT):c.*158G>A rs543066424 0.00240
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848 0.00150
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868 0.00128
NM_194318.4(B3GLCT):c.*669G>A rs373155178 0.00120
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) rs753313963 0.00116
NM_194318.4(B3GLCT):c.*127G>A rs181325514 0.00115
NM_194318.4(B3GLCT):c.*1612A>T rs139632638 0.00082
NM_194318.4(B3GLCT):c.850+11G>A rs199615610 0.00076
NM_194318.4(B3GLCT):c.*755T>G rs533230330 0.00063
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_194318.4(B3GLCT):c.*888T>A rs890281801 0.00052
NM_194318.4(B3GLCT):c.*751A>G rs762054049 0.00029
NM_194318.4(B3GLCT):c.*1698C>T rs534963508 0.00023
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_194318.4(B3GLCT):c.181G>A (p.Val61Ile) rs375667011 0.00021
NM_194318.4(B3GLCT):c.*1545C>T rs185506947 0.00019
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro) rs999173078 0.00018
NM_194318.4(B3GLCT):c.129G>C (p.Glu43Asp) rs572785989 0.00009
NM_194318.4(B3GLCT):c.344C>T (p.Pro115Leu) rs142421716 0.00009
NM_194318.4(B3GLCT):c.*815C>T rs756575776 0.00007
NM_194318.4(B3GLCT):c.*225G>A rs1355762124 0.00006
NM_194318.4(B3GLCT):c.127G>A (p.Glu43Lys) rs779035727 0.00006
NM_194318.4(B3GLCT):c.504A>G (p.Ile168Met) rs116639305 0.00006
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_194318.4(B3GLCT):c.1447G>A (p.Glu483Lys) rs780383474 0.00005
NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile) rs201027107 0.00005
NM_194318.4(B3GLCT):c.*1870A>C rs1257610214 0.00004
NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr) rs759120105 0.00004
NM_194318.4(B3GLCT):c.728A>G (p.Asn243Ser) rs371506964 0.00004
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp) rs781205876 0.00003
NM_194318.4(B3GLCT):c.1372G>A (p.Val458Ile) rs201514470 0.00003
NM_194318.4(B3GLCT):c.673A>G (p.Ile225Val) rs766659397 0.00003
NM_194318.4(B3GLCT):c.716A>G (p.Glu239Gly) rs367648804 0.00003
NM_194318.4(B3GLCT):c.*352A>G rs775568066 0.00002
NM_194318.4(B3GLCT):c.*726C>T rs1875855520 0.00002
NM_194318.4(B3GLCT):c.1185-15T>C rs1005959700 0.00002
NM_194318.4(B3GLCT):c.1446C>T (p.Asp482=) rs756603158 0.00002
NM_194318.4(B3GLCT):c.1451A>G (p.Asp484Gly) rs1478212820 0.00002
NM_194318.4(B3GLCT):c.270+4C>T rs759257291 0.00002
NM_194318.4(B3GLCT):c.335C>T (p.Pro112Leu) rs372324692 0.00002
NM_194318.4(B3GLCT):c.87T>A (p.Ser29=) rs148164370 0.00002
NM_194318.4(B3GLCT):c.*1449T>C rs1257066909 0.00001
NM_194318.4(B3GLCT):c.*1719A>G rs1427207406 0.00001
NM_194318.4(B3GLCT):c.*2373C>G rs1416911376 0.00001
NM_194318.4(B3GLCT):c.*286T>A rs1875832919 0.00001
NM_194318.4(B3GLCT):c.*410A>G rs187473281 0.00001
NM_194318.4(B3GLCT):c.105G>A (p.Glu35=) rs776159472 0.00001
NM_194318.4(B3GLCT):c.1102T>G (p.Ser368Ala) rs1352782339 0.00001
NM_194318.4(B3GLCT):c.1127A>G (p.Glu376Gly) rs1330750557 0.00001
NM_194318.4(B3GLCT):c.1161C>T (p.Tyr387=) rs777629212 0.00001
NM_194318.4(B3GLCT):c.1184+3A>G rs1338898111 0.00001
NM_194318.4(B3GLCT):c.1330-3C>T rs371236148 0.00001
NM_194318.4(B3GLCT):c.264T>C (p.Leu88=) rs751441354 0.00001
NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe) rs1868555206 0.00001
NM_194318.4(B3GLCT):c.421A>G (p.Lys141Glu) rs369251610 0.00001
NM_194318.4(B3GLCT):c.466T>A (p.Phe156Ile) rs976708734 0.00001
NM_194318.4(B3GLCT):c.704C>T (p.Thr235Ile) rs150444977 0.00001
NC_000013.10:g.(?_31774222)_(31860976_?)dup
NC_000013.11:g.(?_31200065)_(31286839_?)dup
NM_194318.4(B3GLCT):c.*1256G>C rs1875890300
NM_194318.4(B3GLCT):c.*1700T>C rs182680558
NM_194318.4(B3GLCT):c.*1752C>T rs200044296
NM_194318.4(B3GLCT):c.*2177T>G rs1875943447
NM_194318.4(B3GLCT):c.*2186G>A rs534851411
NM_194318.4(B3GLCT):c.*2508T>C rs1875960073
NM_194318.4(B3GLCT):c.*403T>A rs1875840649
NM_194318.4(B3GLCT):c.*406A>G rs1875840775
NM_194318.4(B3GLCT):c.*510A>G rs1376758293
NM_194318.4(B3GLCT):c.*522G>A rs1047407059
NM_194318.4(B3GLCT):c.*624G>A rs996047550
NM_194318.4(B3GLCT):c.*710A>T rs1340656434
NM_194318.4(B3GLCT):c.*881T>C rs1875867573
NM_194318.4(B3GLCT):c.*889A>T rs2025729
NM_194318.4(B3GLCT):c.-36C>G rs760425381
NM_194318.4(B3GLCT):c.1027G>T (p.Ala343Ser) rs370910355
NM_194318.4(B3GLCT):c.1064+5G>T rs749084947
NM_194318.4(B3GLCT):c.1135G>A (p.Gly379Ser) rs375168040
NM_194318.4(B3GLCT):c.1318C>G (p.Leu440Val) rs142935066
NM_194318.4(B3GLCT):c.1324C>T (p.His442Tyr)
NM_194318.4(B3GLCT):c.1334G>A (p.Arg445Gln)
NM_194318.4(B3GLCT):c.1347C>A (p.Tyr449Ter) rs2137957629
NM_194318.4(B3GLCT):c.1370A>G (p.Gln457Arg) rs2137957679
NM_194318.4(B3GLCT):c.1405G>A (p.Asp469Asn)
NM_194318.4(B3GLCT):c.1405G>T (p.Asp469Tyr) rs141036237
NM_194318.4(B3GLCT):c.1487A>G (p.Glu496Gly) rs1875814798
NM_194318.4(B3GLCT):c.256G>T (p.Ala86Ser) rs1870254261
NM_194318.4(B3GLCT):c.270+15C>G rs1336731357
NM_194318.4(B3GLCT):c.289C>T (p.Leu97Phe)
NM_194318.4(B3GLCT):c.30C>T (p.Leu10=) rs1323011571
NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)
NM_194318.4(B3GLCT):c.434C>T (p.Thr145Ile)
NM_194318.4(B3GLCT):c.496G>A (p.Ala166Thr)
NM_194318.4(B3GLCT):c.694C>G (p.Pro232Ala) rs890958730
NM_194318.4(B3GLCT):c.756A>G (p.Thr252=) rs771139085
NM_194318.4(B3GLCT):c.764C>A (p.Ser255Tyr) rs1182400359
NM_194318.4(B3GLCT):c.786G>A (p.Lys262=) rs373860865
NM_194318.4(B3GLCT):c.856A>G (p.Ile286Val) rs116754126
NM_194318.4(B3GLCT):c.856A>T (p.Ile286Phe)
NM_194318.4(B3GLCT):c.877A>G (p.Ser293Gly) rs1873231431
NM_194318.4(B3GLCT):c.881_889del (p.Gln294_Ser296del)
NM_194318.4(B3GLCT):c.968A>G (p.His323Arg) rs1566082139

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