List of variants in gene MATR3 reported as benign for autosomal dominant distal myopathy

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_199189.2(MATR3):c.-610C>G	rs11242456	0.53822
NM_018834.6(MATR3):c.*1288T>G	rs10515507	0.51394
NM_018834.6(MATR3):c.*672G>A	rs7305	0.50625
NM_018834.6(MATR3):c.*1259G>C	rs62381613	0.04668
NM_018834.6(MATR3):c.*177A>G	rs13698	0.03913
NM_018834.6(MATR3):c.*708T>C	rs14109	0.03387
NM_018834.6(MATR3):c.*1076T>C	rs2015602	0.02638
NM_018834.6(MATR3):c.*1278T>C	rs116341961	0.01780
NM_018834.6(MATR3):c.1602+6A>G	rs80036770	0.01434
NM_018834.6(MATR3):c.*1535A>G	rs111689401	0.01322
NM_018834.6(MATR3):c.*1425C>G	rs145516036	0.01098
NM_018834.6(MATR3):c.*1482A>T	rs79616595	0.00669
NM_018834.6(MATR3):c.*1087G>C	rs116660718	0.00535
NM_018834.6(MATR3):c.*275C>T	rs187985845	0.00426
NM_018834.6(MATR3):c.*496C>T	rs140707719	0.00411
NM_018834.6(MATR3):c.*747G>C	rs181792838	0.00392
NM_018834.6(MATR3):c.*313A>G	rs180806333	0.00300
NM_018834.6(MATR3):c.*1394G>A	rs572983701	0.00217
NM_018834.6(MATR3):c.1347C>T (p.Ala449=)	rs141986556	0.00120
NM_018834.6(MATR3):c.*1767C>T	rs181125183	0.00104
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser)	rs148402819	0.00083
NM_018834.6(MATR3):c.*769G>A	rs561705958	0.00070
NM_018834.6(MATR3):c.*2054T>A	rs116278472	0.00047
NM_018834.6(MATR3):c.*2200C>T	rs770043950	0.00043
NM_018834.6(MATR3):c.291A>G (p.Leu97=)	rs147239107	0.00034
NM_018834.6(MATR3):c.1130-5T>A	rs188905656	0.00033
NM_018834.6(MATR3):c.1183-5G>A	rs369464069	0.00028
NM_018834.6(MATR3):c.1130-4A>G	rs371701183	0.00027
NM_018834.6(MATR3):c.1435-20G>A	rs75623350	0.00027
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys)	rs781050726	0.00022
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr)	rs148487997	0.00019
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	rs201075828	0.00017
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)	rs201165929	0.00015
NM_018834.6(MATR3):c.2283C>T (p.Asn761=)	rs189752689	0.00014
NM_018834.6(MATR3):c.*2174C>T	rs775200100	0.00011
NM_018834.6(MATR3):c.*406A>G	rs185734839	0.00006
NM_018834.6(MATR3):c.2191T>C (p.Leu731=)	rs149714542	0.00004
NM_018834.6(MATR3):c.2494-14C>A	rs779597861	0.00003
NM_199189.2(MATR3):c.-643A>G	rs765907489	0.00003
NM_018834.6(MATR3):c.69G>A (p.Ala23=)	rs750693851	0.00002
NM_018834.6(MATR3):c.*2194T>A	rs760576225	0.00001
NM_018834.6(MATR3):c.*305A>C	rs563125595	0.00001
NM_018834.6(MATR3):c.*97C>G	rs769044248	0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=)	rs753870064	0.00001
NM_018834.6(MATR3):c.*640A>G	rs145836548
NM_018834.6(MATR3):c.-43T>A	rs12153162
NM_018834.6(MATR3):c.1603-17T>C	rs199789148
NM_018834.6(MATR3):c.2494-12_2494-11del	rs756391139

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