List of variants in gene AGXT reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)	rs199610919	0.00046
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	rs774030578	0.00011
NM_000030.3(AGXT):c.214A>C (p.Asn72His)	rs754637713	0.00006
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)	rs886055840	0.00001
NM_000030.3(AGXT):c.106C>G (p.Arg36Gly)
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)
NM_000030.3(AGXT):c.107G>C (p.Arg36Pro)
NM_000030.3(AGXT):c.139G>T (p.Gly47Trp)	rs180177173
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn)	rs796052058
NM_000030.3(AGXT):c.214A>G (p.Asn72Asp)	rs754637713
NM_000030.3(AGXT):c.216C>G (p.Asn72Lys)
NM_000030.3(AGXT):c.307G>A (p.Gly103Arg)	rs2106427637
NM_000030.3(AGXT):c.359-1G>A
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.424-66_425del
NM_000030.3(AGXT):c.455T>G (p.Phe152Cys)	rs765812098
NM_000030.3(AGXT):c.467G>C (p.Gly156Ala)	rs2058989559
NM_000030.3(AGXT):c.524+1G>A
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)	rs180177235
NM_000030.3(AGXT):c.569G>A (p.Gly190Glu)
NM_000030.3(AGXT):c.569G>C (p.Gly190Ala)	rs2106429472
NM_000030.3(AGXT):c.569G>T (p.Gly190Val)	rs2106429472
NM_000030.3(AGXT):c.585G>A (p.Met195Ile)	rs2106429490
NM_000030.3(AGXT):c.595+2T>A
NM_000030.3(AGXT):c.680+1G>A	rs111996685
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu)	rs121908527
NM_000030.3(AGXT):c.751T>C (p.Trp251Arg)	rs762757818
NM_000030.3(AGXT):c.781C>G (p.His261Asp)	rs778567956
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)	rs180177271
NM_000030.3(AGXT):c.824G>A (p.Ser275Asn)	rs767607960
NM_000030.3(AGXT):c.824G>T (p.Ser275Ile)	rs767607960
NM_000030.3(AGXT):c.943-1G>T	rs180177298

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