ClinVar Miner

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

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00150
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.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.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
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.209G>C (p.Arg70Pro) rs267606763 0.00001
NM_138413.4(HOGA1):c.290G>A (p.Arg97His) rs752252343 0.00001
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) rs756489804 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.110G>A (p.Gly37Asp) rs772722925
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.158del (p.Asp53fs) rs796052091
NM_138413.4(HOGA1):c.186_187del (p.His62fs) rs2540060652
NM_138413.4(HOGA1):c.212-1G>A rs1209105017
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) rs796052088
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter) rs772441887
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) rs796052089
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) rs767405535
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile) rs2135711169
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) rs796052090
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.700+4G>T rs2041105506
NM_138413.4(HOGA1):c.70del (p.Val24fs) rs2135711274
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
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.754C>T (p.Gln252Ter) rs1311447368
NM_138413.4(HOGA1):c.769_770del (p.Cys257fs) rs754306565
NM_138413.4(HOGA1):c.803_805del (p.Leu268del) rs796052092
NM_138413.4(HOGA1):c.811del (p.Arg271fs)
NM_138413.4(HOGA1):c.834_834+1delinsTT rs1564760008
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.881G>A (p.Trp294Ter) rs1266297781
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter) rs769474578

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