List of variants in gene AMT studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	rs201141125	0.00026
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)	rs201189946	0.00017
NM_000481.4(AMT):c.952C>T (p.Arg318Trp)	rs777583902	0.00011
NM_000481.4(AMT):c.463C>T (p.Leu155Phe)	rs201233398	0.00009
NM_000481.4(AMT):c.555C>T (p.Pro185=)	rs144790394	0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val)	rs199985521	0.00007
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)	rs371112488	0.00004
NM_000481.4(AMT):c.436G>A (p.Ala146Thr)	rs570868528	0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)	rs201400089	0.00003
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)	rs768698117	0.00003
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)	rs150079386	0.00003
NM_000481.4(AMT):c.658G>A (p.Val220Met)	rs199638653	0.00003
NM_000481.4(AMT):c.*86G>T	rs745685639	0.00002
NM_000481.4(AMT):c.100C>T (p.Arg34Cys)	rs143389339	0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe)	rs147482804	0.00002
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	rs121964982	0.00001
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)	rs779008890	0.00001
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)	rs374757610	0.00001
NM_000481.4(AMT):c.638T>G (p.Phe213Cys)	rs963795935	0.00001
NM_000481.4(AMT):c.649G>A (p.Gly217Ser)	rs770502702	0.00001
NM_000481.4(AMT):c.1060C>T (p.Pro354Ser)	rs2471145488
NM_000481.4(AMT):c.1099T>G (p.Cys367Gly)	rs760912937
NM_000481.4(AMT):c.338A>G (p.Gln113Arg)	rs1553638735
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)	rs766350668
NM_000481.4(AMT):c.589G>A (p.Asp197Asn)	rs200550585
NM_000481.4(AMT):c.695_696+21del	rs1553638457
NM_000481.4(AMT):c.821G>A (p.Gly274Glu)	rs753730286
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)	rs1323773029
NM_000481.4(AMT):c.950A>G (p.Gln317Arg)	rs146114174

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