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

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	rs774030578	0.00011
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	rs180177180	0.00006
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)	rs758493460	0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His)	rs180177162	0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)	rs569643246	0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)	rs180177165	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)	rs113879010	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.757T>C (p.Cys253Arg)	rs180177264	0.00001
NM_000030.3(AGXT):c.942+1G>A	rs180177297	0.00001
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)	rs756437332
NM_000030.3(AGXT):c.1072-1G>A	rs2528766258
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)	rs121908523
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)	rs2058978377
NM_000030.3(AGXT):c.268dup (p.Leu90fs)	rs2528740235
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)	rs180177189
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	rs2058986184
NM_000030.3(AGXT):c.433del (p.Gln145fs)	rs2528744408
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)	rs2528744859
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)	rs2106428650
NM_000030.3(AGXT):c.524+2T>A	rs1553648568
NM_000030.3(AGXT):c.525-2A>T	rs1452455390
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.662_664del (p.Ser221del)	rs796052071
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)	rs796052072
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)	rs2528758339
NM_000030.3(AGXT):c.848del	rs1215010372
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)	rs180177302

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