ClinVar Miner

List of variants reported as uncertain significance for primary hyperoxaluria by Natera, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr) rs201630144 0.00021
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00017
NM_138413.4(HOGA1):c.771C>T (p.Cys257=) rs550989147 0.00015
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_138413.4(HOGA1):c.701-7C>T rs372897096 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739 0.00004
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) rs372351685 0.00004
NM_138413.4(HOGA1):c.216C>T (p.Phe72=) rs780606715 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_012203.2(GRHPR):c.215-13_215-7del rs780759944 0.00003
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) rs774651961 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) rs749577985 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.882C>T (p.Ala294=) rs757494386 0.00001
NM_000030.3(AGXT):c.942G>A (p.Pro314=) rs553429935 0.00001
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) rs760538945 0.00001
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala) rs1380918472 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.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln) rs892512382 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00001
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=) rs749899995 0.00001
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr) rs748335042 0.00001
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) rs180177191
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly) rs1395056195
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) rs1823674233
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro) rs1221444661
NM_138413.4(HOGA1):c.18C>T (p.Val6=) rs1589899135
NM_138413.4(HOGA1):c.341-8T>C rs2041094866
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser) rs2041094955
NM_138413.4(HOGA1):c.477T>C (p.Asp159=) rs2041100859
NM_138413.4(HOGA1):c.64G>A (p.Val22Met) rs1425518232
NM_138413.4(HOGA1):c.835-7T>A rs768061627

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