ClinVar Miner

List of variants reported for Primary hyperoxaluria, type II by Fulgent Genetics, Fulgent Genetics

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
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_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321

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