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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)	rs774654020	0.00007
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)	rs180177316	0.00002
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)	rs119490108	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	rs180177314	0.00001
NM_012203.2(GRHPR):c.103del (p.Asp35fs)	rs80356708
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)	rs1588757756
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter)

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