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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00006
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	rs180177239	0.00004
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	rs180177227	0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	rs180177157	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)	rs180177207	0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	rs180177238	0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	rs180177253	0.00002
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	rs180177161	0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	rs180177166	0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	rs180177168	0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	rs786204545	0.00001
NM_000030.3(AGXT):c.777-1G>C	rs180177267	0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)	rs180177294	0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs)	rs180177301	0.00001
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	rs180177156
NM_000030.3(AGXT):c.126dup (p.Leu43fs)	rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)	rs180177183
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)	rs180177197
NM_000030.3(AGXT):c.33del (p.Lys12fs)	rs180177201
NM_000030.3(AGXT):c.423+1G>A	rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	rs180177225
NM_000030.3(AGXT):c.524+2T>A	rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.577del (p.Leu193fs)	rs180177241
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	rs1057516896
NM_000030.3(AGXT):c.681-1G>T	rs112673831
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)	rs180177259
NM_000030.3(AGXT):c.776+2T>G	rs1553649007
NM_000030.3(AGXT):c.847-1G>C	rs180177285
NM_000030.3(AGXT):c.847-2_847-1del	rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)	rs180177292
NM_000030.3(AGXT):c.943-1G>T	rs180177298
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)	rs796052064

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