List of variants in gene MTRR reported as benign for autosomal recessive disease

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	rs1801394	0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	rs1532268	0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	rs1802059	0.31218
NM_002454.3(MTRR):c.284-64C>G	rs2303079	0.22681
NM_002454.3(MTRR):c.781-80G>A	rs162035	0.22379
NM_002454.3(MTRR):c.537T>C (p.Leu179=)	rs161870	0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)	rs162036	0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)	rs10380	0.18188
NM_002454.3(MTRR):c.1557+54T>C	rs16879356	0.17987
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)	rs2287780	0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)	rs2287779	0.04224
NM_002454.3(MTRR):c.903+518T>A	rs77578255	0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)	rs16879334	0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)	rs2303080	0.03048
NM_002454.3(MTRR):c.1676+20A>G	rs2303082	0.03042
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)	rs34172797	0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=)	rs35890938	0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)	rs6874544	0.01706
NM_002454.3(MTRR):c.1370+19G>A	rs113005255	0.01540
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)	rs139206262	0.00700
NM_002454.3(MTRR):c.288C>T (p.Leu96=)	rs35587995	0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)	rs41283145	0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)	rs114259126	0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=)	rs144724549	0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=)	rs41282641	0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)	rs144781389	0.00274
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	rs114053717	0.00190
NM_002454.3(MTRR):c.177C>G (p.Thr59=)	rs142098262	0.00147
NM_002454.3(MTRR):c.144C>T (p.Thr48=)	rs138612190	0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=)	rs115289458	0.00120
NM_002454.3(MTRR):c.781-14A>G	rs112996747	0.00104
NM_002454.3(MTRR):c.879T>C (p.Thr293=)	rs773629167	0.00058
NM_002454.3(MTRR):c.540G>A (p.Val180=)	rs149037732	0.00046
NM_002454.3(MTRR):c.463A>C (p.Arg155=)	rs556611332	0.00016
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)	rs201348649	0.00010
NM_002454.3(MTRR):c.246G>C (p.Pro82=)	rs149300444	0.00003
NM_002454.3(MTRR):c.780+20T>C	rs563392085	0.00001
NM_002454.3(MTRR):c.-26+755C>A	rs326119
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)	rs796052001
NM_002454.3(MTRR):c.1146+10del	rs750264866
NM_002454.3(MTRR):c.1147-14G>A	rs9282791
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1677-9del	rs746262908
NM_002454.3(MTRR):c.1677-9dup	rs746262908
NM_002454.3(MTRR):c.1875G>A (p.Val625=)	rs12347
NM_002454.3(MTRR):c.283+9CT[3]	rs1341998318
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC	rs1554003809
NM_002454.3(MTRR):c.904-20dup	rs11398509
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)	rs10064631

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