ClinVar Miner

List of variants reported as uncertain significance for ariboflavinosis

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_017986.4(SLC52A1):c.1229C>A (p.Ala410Glu) rs112874988 0.00048
NM_017986.4(SLC52A1):c.923A>G (p.Tyr308Cys) rs141719111 0.00046
NM_017986.4(SLC52A1):c.815A>T (p.His272Leu) rs137917213 0.00035
NM_017986.4(SLC52A1):c.530C>T (p.Thr177Ile) rs548366865 0.00021
NM_017986.4(SLC52A1):c.1000G>A (p.Val334Met) rs150164483 0.00016
NM_017986.4(SLC52A1):c.1217C>T (p.Pro406Leu) rs373765126 0.00015
NM_017986.4(SLC52A1):c.770C>T (p.Pro257Leu) rs199704379 0.00015
NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr) rs139373407 0.00014
NM_017986.4(SLC52A1):c.502G>A (p.Gly168Ser) rs922011403 0.00009
NM_017986.4(SLC52A1):c.709T>C (p.Ser237Pro) rs150901297 0.00009
NM_017986.4(SLC52A1):c.250G>A (p.Val84Ile) rs773631155 0.00008
NM_017986.4(SLC52A1):c.1142C>T (p.Ser381Leu) rs201578619 0.00007
NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr) rs142353672 0.00007
NM_017986.4(SLC52A1):c.499G>A (p.Val167Met) rs748747430 0.00007
NM_017986.4(SLC52A1):c.505C>T (p.Arg169Cys) rs201198708 0.00007
NM_017986.4(SLC52A1):c.218C>T (p.Pro73Leu) rs137937212 0.00006
NM_017986.4(SLC52A1):c.565G>C (p.Glu189Gln) rs772552197 0.00006
NM_017986.4(SLC52A1):c.634C>T (p.Arg212Trp) rs370188723 0.00006
NM_017986.4(SLC52A1):c.635G>A (p.Arg212Gln) rs377338075 0.00006
NM_017986.4(SLC52A1):c.874G>A (p.Val292Met) rs767702906 0.00006
NM_017986.4(SLC52A1):c.755C>T (p.Pro252Leu) rs148611457 0.00005
NM_017986.4(SLC52A1):c.1314C>G (p.Ser438Arg) rs778902357 0.00004
NM_017986.4(SLC52A1):c.434G>A (p.Arg145Gln) rs374174324 0.00004
NM_017986.4(SLC52A1):c.787A>G (p.Thr263Ala) rs747246989 0.00004
NM_017986.4(SLC52A1):c.1273G>A (p.Ala425Thr) rs747887020 0.00003
NM_017986.4(SLC52A1):c.1278G>T (p.Met426Ile) rs1265990534 0.00001
NM_017986.4(SLC52A1):c.287C>T (p.Ala96Val) rs745318099 0.00001
NM_017986.4(SLC52A1):c.304G>A (p.Val102Met) rs755844433 0.00001
NM_017986.4(SLC52A1):c.524C>T (p.Ala175Val) rs757695687 0.00001
NM_017986.4(SLC52A1):c.569G>A (p.Arg190His) rs545814197 0.00001
NM_017986.4(SLC52A1):c.581G>A (p.Ser194Asn) rs200459465 0.00001
NM_017986.4(SLC52A1):c.702A>T (p.Gln234His) rs751989574 0.00001
NM_017986.4(SLC52A1):c.928C>T (p.Arg310Cys) rs778417188 0.00001
NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala) rs1004440864 0.00001
NC_000017.10:g.(?_4936232)_(4937921_?)dup
NC_000017.10:g.(?_4936252)_(4937901_?)del
NM_017986.4(SLC52A1):c.1014C>A (p.Ser338=) rs1975366423
NM_017986.4(SLC52A1):c.1062del (p.Tyr355fs) rs537206157
NM_017986.4(SLC52A1):c.1081A>G (p.Ile361Val)
NM_017986.4(SLC52A1):c.1095C>A (p.Cys365Ter) rs1204849464
NM_017986.4(SLC52A1):c.1103del (p.Leu368fs)
NM_017986.4(SLC52A1):c.1134+6C>T
NM_017986.4(SLC52A1):c.1139T>C (p.Leu380Pro)
NM_017986.4(SLC52A1):c.1142_1153del rs747792931
NM_017986.4(SLC52A1):c.1169C>T (p.Ser390Leu)
NM_017986.4(SLC52A1):c.1181_1182insA (p.Ala395fs) rs2143425548
NM_017986.4(SLC52A1):c.1187C>A (p.Ala396Glu) rs2143425497
NM_017986.4(SLC52A1):c.1210G>A (p.Gly404Ser)
NM_017986.4(SLC52A1):c.1226T>C (p.Leu409Pro)
NM_017986.4(SLC52A1):c.125C>T (p.Pro42Leu)
NM_017986.4(SLC52A1):c.1270G>A (p.Gly424Ser)
NM_017986.4(SLC52A1):c.1289C>G (p.Thr430Ser)
NM_017986.4(SLC52A1):c.1292del (p.Ser431fs)
NM_017986.4(SLC52A1):c.1337G>A (p.Cys446Tyr) rs200539588
NM_017986.4(SLC52A1):c.1340G>A (p.Gly447Asp) rs768096941
NM_017986.4(SLC52A1):c.14C>T (p.Thr5Met)
NM_017986.4(SLC52A1):c.155C>T (p.Ser52Phe)
NM_017986.4(SLC52A1):c.158_171del (p.Val53fs)
NM_017986.4(SLC52A1):c.208_209inv (p.Gln70Trp)
NM_017986.4(SLC52A1):c.215C>A (p.Ala72Asp)
NM_017986.4(SLC52A1):c.221dup (p.Lys75fs) rs1975404144
NM_017986.4(SLC52A1):c.227G>A (p.Gly76Asp)
NM_017986.4(SLC52A1):c.229G>A (p.Glu77Lys)
NM_017986.4(SLC52A1):c.271G>A (p.Gly91Ser)
NM_017986.4(SLC52A1):c.283C>A (p.Leu95Met)
NM_017986.4(SLC52A1):c.289C>T (p.Pro97Ser)
NM_017986.4(SLC52A1):c.290C>T (p.Pro97Leu)
NM_017986.4(SLC52A1):c.298C>T (p.His100Tyr)
NM_017986.4(SLC52A1):c.308C>T (p.Ala103Val) rs2143433666
NM_017986.4(SLC52A1):c.370G>A (p.Ala124Thr)
NM_017986.4(SLC52A1):c.376T>C (p.Cys126Arg)
NM_017986.4(SLC52A1):c.432dup (p.Arg145fs) rs1567734976
NM_017986.4(SLC52A1):c.433C>T (p.Arg145Trp)
NM_017986.4(SLC52A1):c.453G>C (p.Gln151His)
NM_017986.4(SLC52A1):c.506G>A (p.Arg169His)
NM_017986.4(SLC52A1):c.533A>G (p.Asn178Ser)
NM_017986.4(SLC52A1):c.546del (p.Pro183fs) rs1567734870
NM_017986.4(SLC52A1):c.548C>G (p.Pro183Arg)
NM_017986.4(SLC52A1):c.548C>T (p.Pro183Leu) rs767915936
NM_017986.4(SLC52A1):c.563C>T (p.Pro188Leu)
NM_017986.4(SLC52A1):c.566A>G (p.Glu189Gly) rs1189338503
NM_017986.4(SLC52A1):c.568C>T (p.Arg190Cys)
NM_017986.4(SLC52A1):c.56T>C (p.Phe19Ser)
NM_017986.4(SLC52A1):c.587del (p.Phe196fs)
NM_017986.4(SLC52A1):c.61A>G (p.Met21Val) rs2143436753
NM_017986.4(SLC52A1):c.63G>A (p.Met21Ile) rs1341817796
NM_017986.4(SLC52A1):c.65G>A (p.Gly22Asp)
NM_017986.4(SLC52A1):c.692C>T (p.Pro231Leu) rs2143430852
NM_017986.4(SLC52A1):c.707G>A (p.Gly236Glu)
NM_017986.4(SLC52A1):c.733A>G (p.Lys245Glu)
NM_017986.4(SLC52A1):c.733_735del (p.Lys245del)
NM_017986.4(SLC52A1):c.742G>T (p.Glu248Ter)
NM_017986.4(SLC52A1):c.748G>A (p.Ala250Thr)
NM_017986.4(SLC52A1):c.760C>G (p.Gln254Glu)
NM_017986.4(SLC52A1):c.80_92del (p.Val27fs)
NM_017986.4(SLC52A1):c.85G>A (p.Gly29Arg)
NM_017986.4(SLC52A1):c.866C>T (p.Thr289Ile) rs1975375799
NM_017986.4(SLC52A1):c.877A>G (p.Thr293Ala)
NM_017986.4(SLC52A1):c.885C>T (p.Gly295=)
NM_017986.4(SLC52A1):c.88A>C (p.Ile30Leu) rs2143436520
NM_017986.4(SLC52A1):c.914G>C (p.Cys305Ser)
NM_017986.4(SLC52A1):c.921C>G (p.Pro307=) rs1483875358
NM_017986.4(SLC52A1):c.952G>C (p.Val318Leu)
NM_017986.4(SLC52A1):c.967G>A (p.Ala323Thr)
NM_017986.4(SLC52A1):c.980C>T (p.Ala327Val) rs1473524198
NM_017986.4(SLC52A1):c.987C>G (p.Phe329Leu)
NM_017986.4(SLC52A1):c.991G>C (p.Ala331Pro)

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