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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.353G>A (p.Arg118His)	rs138025751	0.00005
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	rs180177184	0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	rs138584408	0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	rs180177203	0.00001
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)	rs180177160
NM_000030.3(AGXT):c.126del (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)	rs180177236
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	rs1057516896

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