List of variants in gene combination AMACR, C1QTNF3-AMACR reported as uncertain significance by Eurofins NTD LLC (GA)

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)	rs145786819	0.00084
NM_014324.6(AMACR):c.247+8C>G	rs779779299	0.00032
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro)	rs765322702	0.00026
NM_014324.6(AMACR):c.783G>A (p.Met261Ile)	rs9282593	0.00022
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys)	rs773780945	0.00010
NM_014324.6(AMACR):c.662C>T (p.Thr221Met)	rs573730345	0.00008
NM_014324.6(AMACR):c.247+9G>T	rs1361255226	0.00006
NM_014324.6(AMACR):c.429G>A (p.Pro143=)	rs368427062	0.00006
NM_014324.6(AMACR):c.785A>G (p.Asp262Gly)	rs141025802	0.00006
NM_014324.6(AMACR):c.90T>G (p.Arg30=)	rs769780647	0.00006
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)	rs779290495	0.00004
NM_014324.6(AMACR):c.1083C>T (p.Arg361=)	rs561675407	0.00004
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser)	rs781463041	0.00004
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu)	rs367814719	0.00003
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg)	rs377130820	0.00002
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly)	rs200270822	0.00001
NM_014324.6(AMACR):c.1149A>C (p.Ter383Tyr)	rs1182523287	0.00001
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp)	rs777768049	0.00001
NM_014324.6(AMACR):c.714C>G (p.Pro238=)	rs200824585	0.00001
NM_014324.6(AMACR):c.1032T>A (p.Pro344=)	rs1189329151
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	rs199734111
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg)	rs1554006390
NM_014324.6(AMACR):c.1A>T (p.Met1Leu)	rs1561047704
NM_014324.6(AMACR):c.243C>T (p.Arg81=)	rs780748531
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro)	rs139273474
NM_014324.6(AMACR):c.553-8T>C	rs768638474
NM_014324.6(AMACR):c.785A>T (p.Asp262Val)	rs141025802

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