ClinVar Miner

List of variants in gene HOGA1 reported as likely pathogenic for Primary hyperoxaluria type 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00024
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
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.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys) rs776161817 0.00005
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
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.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.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 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.123del (p.Pro41_Val42insTer) rs1419840309 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.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 0.00001
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr) rs1395953286 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.580G>A (p.Gly194Ser) rs763146679 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.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.973G>A (p.Gly325Ser) rs777046879 0.00001
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.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.166A>T (p.Lys56Ter)
NM_138413.4(HOGA1):c.189del (p.Lys63fs) rs1247079002
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.212G>T (p.Gly71Val) rs2041090208
NM_138413.4(HOGA1):c.223C>T (p.Gln75Ter)
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.340+1G>A rs759407659
NM_138413.4(HOGA1):c.340+1G>C rs759407659
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.404del (p.Val135fs) rs1554874148
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.469-1G>C rs1353010901
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.603+1G>A rs2135722313
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.651dup (p.Gln218fs) rs759146945
NM_138413.4(HOGA1):c.700+2T>A rs990830655
NM_138413.4(HOGA1):c.700G>C (p.Gly234Arg)
NM_138413.4(HOGA1):c.701-2A>G rs776817346
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.733G>T (p.Val245Phe) rs755562733
NM_138413.4(HOGA1):c.743del (p.Ala248fs) rs766897646
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.805C>T (p.Gln269Ter)
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.844C>T (p.Arg282Cys) rs553573861
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu) rs138207257
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg) rs2540086673
NM_138413.4(HOGA1):c.907C>G (p.Arg303Gly) rs149150736
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro) rs758412400

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.