ClinVar Miner

List of variants in gene POMT1 studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser)
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser)
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu)
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1365+10C>T rs200089530
NM_001077365.2(POMT1):c.1366-6C>T rs781702944
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp)
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys)
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1465_1467GAG[1] (p.Glu490del)
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del)
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val)
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu)
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+1G>A rs763586263
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=)
NM_001077365.2(POMT1):c.2003+4C>T rs766635497
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp)
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) rs750453909
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050
NM_001077365.2(POMT1):c.280+1G>T rs746823238
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn)
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149
NM_001077365.2(POMT1):c.640G>A (p.Val214Met)
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.687G>C (p.Gln229His)
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+53= rs2296949
NM_001077365.2(POMT1):c.699+62del rs1356791510
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile)
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.879G>T (p.Gln293His)
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689

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