ClinVar Miner

List of variants in gene HOGA1 studied for Primary hyperoxaluria type 3

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Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.*445A>G rs1812286 0.40584
NM_138413.4(HOGA1):c.*498G>A rs2018017 0.40451
NM_138413.4(HOGA1):c.*355C>T rs1977642 0.39537
NM_138413.4(HOGA1):c.835-120A>G rs1124116 0.34160
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_138413.4(HOGA1):c.*313A>C rs933057 0.25981
NM_138413.4(HOGA1):c.*560T>C rs1977641 0.23684
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_138413.4(HOGA1):c.469-25C>T rs7078003 0.14259
NM_138413.4(HOGA1):c.469-31C>T rs75929214 0.09030
NM_138413.4(HOGA1):c.*360C>T rs114372258 0.03198
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_138413.4(HOGA1):c.-279G>A rs41309988 0.02511
NM_138413.4(HOGA1):c.834+42G>T rs115279832 0.01504
NM_138413.4(HOGA1):c.777G>A (p.Thr259=) rs34820265 0.01024
NM_138413.4(HOGA1):c.*94C>T rs116711005 0.00688
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_138413.4(HOGA1):c.*101C>T rs41290458 0.00319
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00150
NM_138413.4(HOGA1):c.*68C>T rs551593998 0.00107
NM_138413.4(HOGA1):c.*425T>C rs189957405 0.00087
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_138413.4(HOGA1):c.*950G>A rs190392004 0.00058
NM_138413.4(HOGA1):c.*292C>T rs771988623 0.00056
NM_138413.4(HOGA1):c.*55T>C rs763365957 0.00048
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_138413.4(HOGA1):c.*289C>T rs540860054 0.00033
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_138413.4(HOGA1):c.603+19G>A rs370990433 0.00026
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00024
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr) rs201630144 0.00019
NM_138413.4(HOGA1):c.*290G>A rs144890621 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138413.4(HOGA1):c.579G>A (p.Val193=) rs142057128 0.00016
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile) rs189919790 0.00016
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00015
NM_138413.4(HOGA1):c.395C>T (p.Ala132Val) rs200236086 0.00015
NM_138413.4(HOGA1):c.701-18G>C rs201596675 0.00015
NM_138413.4(HOGA1):c.771C>T (p.Cys257=) rs550989147 0.00015
NM_138413.4(HOGA1):c.*593G>A rs564823369 0.00014
NM_138413.4(HOGA1):c.541G>C (p.Asp181His) rs148621526 0.00012
NM_138413.4(HOGA1):c.594C>T (p.Ser198=) rs374733151 0.00012
NM_138413.4(HOGA1):c.700+9C>T rs375091787 0.00012
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr) rs115431683 0.00010
NM_138413.4(HOGA1):c.*1047T>C rs537101942 0.00009
NM_138413.4(HOGA1):c.*427G>A rs181759217 0.00009
NM_138413.4(HOGA1):c.*550A>G rs991121870 0.00009
NM_138413.4(HOGA1):c.284G>A (p.Arg95His) rs754634699 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_138413.4(HOGA1):c.*186C>T rs576078709 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys) rs201450556 0.00006
NM_138413.4(HOGA1):c.802C>T (p.Leu268=) rs201910899 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=) rs770050262 0.00006
NM_138413.4(HOGA1):c.908G>A (p.Arg303His) rs761150081 0.00006
NM_138413.4(HOGA1):c.*352T>C rs545072905 0.00005
NM_138413.4(HOGA1):c.701-7C>T rs372897096 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys) rs776161817 0.00005
NM_138413.4(HOGA1):c.216C>T (p.Phe72=) rs780606715 0.00004
NM_138413.4(HOGA1):c.309C>T (p.Asn103=) rs772566254 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00003
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138413.4(HOGA1):c.909C>T (p.Arg303=) rs764469579 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_138413.4(HOGA1):c.*109C>T rs534886813 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_138413.4(HOGA1):c.39G>A (p.Gly13=) rs200127255 0.00002
NM_138413.4(HOGA1):c.425G>A (p.Arg142His) rs368418234 0.00002
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter) rs377638985 0.00002
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00002
NM_138413.4(HOGA1):c.*291C>T rs1451536369 0.00001
NM_138413.4(HOGA1):c.*887C>G rs2041206041 0.00001
NM_138413.4(HOGA1):c.-224G>A rs1176162564 0.00001
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val) rs758339645 0.00001
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) rs746419489 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala) rs1380918472 0.00001
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro) rs1221444661 0.00001
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) rs267606763 0.00001
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser) rs116731711 0.00001
NM_138413.4(HOGA1):c.212-6T>C rs372066473 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys) rs769137843 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr) rs1167209340 0.00001
NM_138413.4(HOGA1):c.283C>T (p.Arg95Cys) rs751366895 0.00001
NM_138413.4(HOGA1):c.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.329C>T (p.Ser110Phe) rs1307213959 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile) rs143213321 0.00001
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr) rs1395953286 0.00001
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160 0.00001
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00001
NM_138413.4(HOGA1):c.415T>G (p.Cys139Gly) rs574289283 0.00001
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln) rs771766335 0.00001
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=) rs749899995 0.00001
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu) rs372077963 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser) rs374327791 0.00001
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser) rs763146679 0.00001
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp) rs376747234 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.784T>G (p.Trp262Gly) rs773306071 0.00001
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr) rs1185113487 0.00001
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr) rs748335042 0.00001
NM_138413.4(HOGA1):c.834+1G>T rs749315029 0.00001
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804 0.00001
NM_138413.4(HOGA1):c.841C>T (p.Arg281Trp) rs764224799 0.00001
NM_138413.4(HOGA1):c.845G>A (p.Arg282His) rs779027672 0.00001
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) rs796052087 0.00001
NM_138413.4(HOGA1):c.933C>T (p.Pro311=) rs561984280 0.00001
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) rs777046879 0.00001
NM_138413.4(HOGA1):c.*1059A>C rs886047524
NM_138413.4(HOGA1):c.*186C>A rs576078709
NM_138413.4(HOGA1):c.*288A>C rs886047520
NM_138413.4(HOGA1):c.*391T>C rs2041201199
NM_138413.4(HOGA1):c.*415T>A rs148648470
NM_138413.4(HOGA1):c.*485C>T rs553100036
NM_138413.4(HOGA1):c.*592C>G rs573565860
NM_138413.4(HOGA1):c.*592C>T rs573565860
NM_138413.4(HOGA1):c.*637G>A rs1977640
NM_138413.4(HOGA1):c.*665C>T rs2041204731
NM_138413.4(HOGA1):c.*937C>T rs532737566
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp) rs772722925
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs) rs1564753668
NM_138413.4(HOGA1):c.122del (p.Pro41fs) rs1425736036
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.131C>T (p.Thr44Ile)
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp) rs1347221993
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.166A>T (p.Lys56Ter)
NM_138413.4(HOGA1):c.186_187del (p.His62fs) rs2540060652
NM_138413.4(HOGA1):c.189del (p.Lys63fs) rs1247079002
NM_138413.4(HOGA1):c.18C>T (p.Val6=) rs1589899135
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys) rs369191992
NM_138413.4(HOGA1):c.204dup (p.Phe69fs) rs2540060692
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys) rs2540060695
NM_138413.4(HOGA1):c.212-1G>A rs1209105017
NM_138413.4(HOGA1):c.212-9C>G rs1589907586
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val) rs2041090208
NM_138413.4(HOGA1):c.223C>T (p.Gln75Ter)
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter) rs772441887
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer) rs1325819099
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro) rs776628325
NM_138413.4(HOGA1):c.266G>A (p.Arg89His) rs765160493
NM_138413.4(HOGA1):c.28G>A (p.Val10Met)
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) rs796052089
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln) rs892512382
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.337G>C (p.Glu113Gln)
NM_138413.4(HOGA1):c.340+1G>A rs759407659
NM_138413.4(HOGA1):c.340+1G>C rs759407659
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.341-8T>C rs2041094866
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser) rs2041094955
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.34C>T (p.Gln12Ter)
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu) rs2540074585
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly) rs2540074585
NM_138413.4(HOGA1):c.363G>C (p.Met121Ile)
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile) rs2135711169
NM_138413.4(HOGA1):c.402G>T (p.Met134Ile)
NM_138413.4(HOGA1):c.403G>C (p.Val135Leu)
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.412C>T (p.Pro138Ser)
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.423T>A (p.Tyr141Ter)
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.468+12G>T
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.469-1G>C rs1353010901
NM_138413.4(HOGA1):c.477T>C (p.Asp159=) rs2041100859
NM_138413.4(HOGA1):c.488T>C (p.Ile163Thr)
NM_138413.4(HOGA1):c.502T>C (p.Tyr168His)
NM_138413.4(HOGA1):c.518A>G (p.Asn173Ser)
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr) rs2540075778
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr) rs376371068
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.604-4G>T rs2041104477
NM_138413.4(HOGA1):c.624_627del (p.Val209fs)
NM_138413.4(HOGA1):c.633del (p.Thr212fs)
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro) rs779492256
NM_138413.4(HOGA1):c.64G>A (p.Val22Met) rs1425518232
NM_138413.4(HOGA1):c.651dup (p.Gln218fs) rs759146945
NM_138413.4(HOGA1):c.656T>A (p.Val219Glu)
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr) rs2041104991
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro) rs2041104991
NM_138413.4(HOGA1):c.700+2T>A rs990830655
NM_138413.4(HOGA1):c.700+4G>T rs2041105506
NM_138413.4(HOGA1):c.700G>C (p.Gly234Arg)
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.70G>A (p.Val24Ile)
NM_138413.4(HOGA1):c.70G>C (p.Val24Leu)
NM_138413.4(HOGA1):c.70del (p.Val24fs) rs2135711274
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.713dup (p.Val239fs) rs760930050
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter) rs183301169
NM_138413.4(HOGA1):c.724dup (p.Leu242fs)
NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp) rs796052085
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) rs755562733
NM_138413.4(HOGA1):c.733G>C (p.Val245Leu)
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe) rs755562733
NM_138413.4(HOGA1):c.743del (p.Ala248fs) rs766897646
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter) rs1311447368
NM_138413.4(HOGA1):c.769_770del (p.Cys257fs) rs754306565
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met) rs144103035
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter) rs766236522
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.803_805del (p.Leu268del) rs796052092
NM_138413.4(HOGA1):c.805C>T (p.Gln269Ter)
NM_138413.4(HOGA1):c.811del (p.Arg271fs)
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val) rs2540078331
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu) rs1182162593
NM_138413.4(HOGA1):c.834+1G>A rs749315029
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138413.4(HOGA1):c.834G>T (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.834_834+1delinsTT rs1564760008
NM_138413.4(HOGA1):c.835-7T>A rs768061627
NM_138413.4(HOGA1):c.842G>A (p.Arg281Gln)
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys) rs553573861
NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter) rs764274149
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu) rs138207257
NM_138413.4(HOGA1):c.863T>G (p.Leu288Arg)
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257
NM_138413.4(HOGA1):c.876G>A (p.Met292Ile)
NM_138413.4(HOGA1):c.880T>A (p.Trp294Arg)
NM_138413.4(HOGA1):c.881G>A (p.Trp294Ter) rs1266297781
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg) rs2540086673
NM_138413.4(HOGA1):c.89G>T (p.Gly30Val) rs759795758
NM_138413.4(HOGA1):c.905G>C (p.Cys302Ser)
NM_138413.4(HOGA1):c.907C>G (p.Arg303Gly) rs149150736
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro) rs758412400
NM_138413.4(HOGA1):c.937G>A (p.Glu313Lys)
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter) rs769474578
NM_138413.4(HOGA1):c.944A>C (p.Glu315Ala)
NM_138413.4(HOGA1):c.944A>G (p.Glu315Gly)
NM_138413.4(HOGA1):c.974G>T (p.Gly325Val)

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