List of variants in gene MTRR reported as uncertain significance for hematologic disorder

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: 159

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	rs144899305	0.00096
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)	rs142714881	0.00077
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)	rs74790259	0.00059
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)	rs149678769	0.00041
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)	rs146415045	0.00039
NM_002454.3(MTRR):c.906T>C (p.Asn302=)	rs144729918	0.00025
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)	rs148414435	0.00023
NM_002454.3(MTRR):c.505G>A (p.Val169Met)	rs147742177	0.00021
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	rs138098668	0.00012
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)	rs996966324	0.00011
NM_002454.3(MTRR):c.1677-2dup	rs747255318	0.00009
NM_002454.3(MTRR):c.1676+3A>G	rs369853875	0.00008
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)	rs372106115	0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His)	rs767507060	0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=)	rs114427781	0.00007
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)	rs769915505	0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)	rs150411351	0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg)	rs185235284	0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)	rs375421492	0.00006
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)	rs374239028	0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)	rs202110383	0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)	rs757635349	0.00005
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)	rs1183944927	0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)	rs774333382	0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His)	rs777202031	0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)	rs201557658	0.00004
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)	rs755408035	0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)	rs773984668	0.00003
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)	rs1239051004	0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)	rs777447397	0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)	rs767321681	0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)	rs763568058	0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)	rs754157293	0.00002
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)	rs140944718	0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)	rs750381895	0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)	rs746404785	0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)	rs1243456483	0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)	rs749461781	0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)	rs937595017	0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)	rs1343250131	0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)	rs771421325	0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)	rs771123203	0.00001
NM_002454.3(MTRR):c.1769+8A>G	rs892239997	0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)	rs1318949494	0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)	rs144020429	0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)	rs9282786	0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)	rs1484416611	0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=)	rs560392566	0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val)	rs886060804	0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)	rs1182297284	0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)	rs753325140	0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His)	rs748186027	0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)	rs1238722351	0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)	rs1343821146	0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)	rs1377146830	0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)	rs766083570	0.00001
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)	rs2126751184
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)	rs776598893
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)	rs1405292334
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)	rs764469824
NM_002454.3(MTRR):c.1401T>G (p.His467Gln)	rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)	rs1737830740
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)	rs2126793498
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)	rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)	rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)	rs2126793764
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)	rs752471011
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)	rs1738413262
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)	rs1738616151
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)	rs781416288
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)	rs939239779
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)	rs2126814266
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)	rs1739209079
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)	rs751318676
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)	rs767507060
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)	rs775031794
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)	rs1748351304
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)	rs2126675683
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu)	rs770923981
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)	rs2126693065
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)	rs1734869328
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)	rs748186027
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)	rs371860776
NM_002454.3(MTRR):c.781-5T>G	rs2126727387
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)	rs750009895
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)	rs776031136
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)	rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)	rs2126745139
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=)	rs1747850617

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.