ClinVar Miner

List of variants in gene HOGA1 reported as likely pathogenic for primary hyperoxaluria

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
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.811C>T (p.Arg271Cys) rs367741588 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.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.331G>A (p.Gly111Arg) rs200529020 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 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.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.341-1G>A rs1554874130 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.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138413.4(HOGA1):c.834+1G>T rs749315029 0.00001
NM_138413.4(HOGA1):c.841C>T (p.Arg281Trp) rs764224799 0.00001
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)
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)
NM_138413.4(HOGA1):c.122dup (p.Val42fs) rs1425736036
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.189del (p.Lys63fs) rs1247079002
NM_138413.4(HOGA1):c.204dup (p.Phe69fs)
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
NM_138413.4(HOGA1):c.212-1G>A
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
NM_138413.4(HOGA1):c.340+1G>A
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
NM_138413.4(HOGA1):c.404del (p.Val135fs) rs1554874148
NM_138413.4(HOGA1):c.413del (p.Pro138fs) rs777683624
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
NM_138413.4(HOGA1):c.448del (p.Leu150fs) rs746776892
NM_138413.4(HOGA1):c.469-1G>C
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
NM_138413.4(HOGA1):c.700+2T>A
NM_138413.4(HOGA1):c.700G>C (p.Gly234Arg)
NM_138413.4(HOGA1):c.701-2A>G rs776817346
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe) rs755562733
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
NM_138413.4(HOGA1):c.784T>G (p.Trp262Gly)
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter) rs752277936
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
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)
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
NM_138413.4(HOGA1):c.952C>T (p.Arg318Cys)

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