ClinVar Miner

List of variants in gene MTRFR studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_152269.5(MTRFR):c.*515T>G rs1533703 0.64844
NM_152269.5(MTRFR):c.*198T>C rs1969354 0.62265
NM_152269.5(MTRFR):c.*483G>A rs1969355 0.57786
NM_152269.5(MTRFR):c.*354G>A rs11057214 0.05128
NM_152269.5(MTRFR):c.*454A>C rs76029248 0.04557
NM_152269.5(MTRFR):c.*128C>A rs11554169 0.04556
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_152269.5(MTRFR):c.*809A>C rs148902117 0.00373
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_152269.5(MTRFR):c.71G>A (p.Arg24Gln) rs144150548 0.00058
NM_152269.5(MTRFR):c.54G>A (p.Pro18=) rs188310109 0.00031
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_152269.5(MTRFR):c.283-19_283-16dup rs758700066 0.00021
NM_152269.5(MTRFR):c.*211C>T rs749221383 0.00018
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_152269.5(MTRFR):c.112G>A (p.Val38Ile) rs146534475 0.00014
NM_152269.5(MTRFR):c.*761G>A rs551684840 0.00011
NM_152269.5(MTRFR):c.120G>A (p.Pro40=) rs377142152 0.00011
NM_152269.5(MTRFR):c.56C>T (p.Ala19Val) rs140452371 0.00011
NM_152269.5(MTRFR):c.*143G>T rs886049042 0.00010
NM_152269.5(MTRFR):c.326G>A (p.Arg109Gln) rs147098739 0.00010
NM_152269.5(MTRFR):c.32C>T (p.Thr11Ile) rs143410718 0.00009
NM_152269.5(MTRFR):c.*439C>T rs1464561680 0.00006
NM_152269.5(MTRFR):c.*674A>G rs886049044 0.00006
NM_152269.5(MTRFR):c.325C>T (p.Arg109Trp) rs372252104 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_152269.5(MTRFR):c.*212G>A rs1189843224 0.00004
NM_152269.5(MTRFR):c.*747G>A rs886049048 0.00004
NM_152269.5(MTRFR):c.*869T>C rs1419363631 0.00004
NM_152269.5(MTRFR):c.181G>A (p.Glu61Lys) rs768652922 0.00004
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_152269.5(MTRFR):c.244G>A (p.Val82Met) rs374311195 0.00002
NM_152269.5(MTRFR):c.282+17C>T rs1197939863 0.00002
NM_152269.5(MTRFR):c.34C>T (p.Pro12Ser) rs751310720 0.00002
NM_152269.5(MTRFR):c.405G>A (p.Ala135=) rs941522491 0.00002
NM_152269.5(MTRFR):c.459G>C (p.Lys153Asn) rs773644413 0.00002
NM_152269.5(MTRFR):c.*13A>C rs527540475 0.00001
NM_152269.5(MTRFR):c.*195G>A rs139881564 0.00001
NM_152269.5(MTRFR):c.*853C>G rs1039664652 0.00001
NM_152269.5(MTRFR):c.*887T>A rs1348487479 0.00001
NM_152269.5(MTRFR):c.276T>C (p.Val92=) rs907535491 0.00001
NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys) rs367548363 0.00001
NM_152269.5(MTRFR):c.297A>T (p.Arg99Ser) rs1459276555 0.00001
NM_152269.5(MTRFR):c.333C>A (p.Ile111=) rs769551356 0.00001
NM_152269.5(MTRFR):c.347T>C (p.Val116Ala) rs374464556 0.00001
NM_152269.5(MTRFR):c.353T>C (p.Val118Ala) rs767743830 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_152269.5(MTRFR):c.433G>A (p.Ala145Thr) rs749208492 0.00001
NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg) rs755467137 0.00001
NM_152269.5(MTRFR):c.57G>A (p.Ala19=) rs749569183 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
NC_000012.11:g.(?_123738222)_(123738523_?)dup
NC_000012.11:g.(?_123741340)_(123741578_?)del
NC_000012.12:g.(?_123253665)_(123257041_?)dup
NM_152269.5(MTRFR):c.*139A>C rs886049041
NM_152269.5(MTRFR):c.*14del rs886049040
NM_152269.5(MTRFR):c.*159G>A rs2048192268
NM_152269.5(MTRFR):c.*374A>G rs2048195019
NM_152269.5(MTRFR):c.*468C>T rs886049043
NM_152269.5(MTRFR):c.*647G>C rs565651935
NM_152269.5(MTRFR):c.*696_*699del rs202152701
NM_152269.5(MTRFR):c.*702CAGT[1] rs886049046
NM_152269.5(MTRFR):c.*711_*713del rs148010033
NM_152269.5(MTRFR):c.104_105delinsAT (p.Gly35Asp) rs2138792679
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.136A>G (p.Lys46Glu) rs2138792797
NM_152269.5(MTRFR):c.136AAG[1] (p.Lys47del)
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
NM_152269.5(MTRFR):c.160T>C (p.Ser54Pro)
NM_152269.5(MTRFR):c.166G>C (p.Asp56His)
NM_152269.5(MTRFR):c.191T>C (p.Phe64Ser)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.194T>C (p.Val65Ala) rs2138793021
NM_152269.5(MTRFR):c.204C>T (p.His68=)
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
NM_152269.5(MTRFR):c.229A>G (p.Lys77Glu)
NM_152269.5(MTRFR):c.22C>G (p.His8Asp)
NM_152269.5(MTRFR):c.234C>A (p.Thr78=) rs140942886
NM_152269.5(MTRFR):c.246G>A (p.Val82=) rs1593287730
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152269.5(MTRFR):c.256C>G (p.His86Asp)
NM_152269.5(MTRFR):c.257A>T (p.His86Leu) rs1565998038
NM_152269.5(MTRFR):c.258C>T (p.His86=)
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
NM_152269.5(MTRFR):c.269G>A (p.Gly90Asp)
NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)
NM_152269.5(MTRFR):c.274G>A (p.Val92Ile) rs781746861
NM_152269.5(MTRFR):c.282+15G>A
NM_152269.5(MTRFR):c.282+18G>A
NM_152269.5(MTRFR):c.283-10T>C
NM_152269.5(MTRFR):c.283-12_283-10del
NM_152269.5(MTRFR):c.283-13T>C
NM_152269.5(MTRFR):c.283-7_283-6del
NM_152269.5(MTRFR):c.283-8T>G
NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)
NM_152269.5(MTRFR):c.303T>C (p.Val101=) rs2048186948
NM_152269.5(MTRFR):c.304G>A (p.Asp102Asn) rs1565999184
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.346G>A (p.Val116Ile)
NM_152269.5(MTRFR):c.347T>G (p.Val116Gly)
NM_152269.5(MTRFR):c.355T>C (p.Phe119Leu)
NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
NM_152269.5(MTRFR):c.361A>G (p.Asn121Asp) rs1473803862
NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)
NM_152269.5(MTRFR):c.371_373del (p.Asn124del) rs1195098928
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
NM_152269.5(MTRFR):c.389A>C (p.Glu130Ala)
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520
NM_152269.5(MTRFR):c.410A>G (p.Lys137Arg)
NM_152269.5(MTRFR):c.419A>G (p.Glu140Gly) rs1255911546
NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
NM_152269.5(MTRFR):c.430_432del (p.Arg144del)
NM_152269.5(MTRFR):c.431G>A (p.Arg144Lys)
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
NM_152269.5(MTRFR):c.455A>G (p.Lys152Arg)
NM_152269.5(MTRFR):c.462A>T (p.Leu154=) rs1465610404
NM_152269.5(MTRFR):c.486T>A (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) rs371852394
NM_152269.5(MTRFR):c.53C>T (p.Pro18Leu) rs930288422
NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu) rs144150548
NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
NM_152269.5(MTRFR):c.99C>T (p.Ser33=) rs2138792659
NM_152269.5(MTRFR):c.9C>T (p.Thr3=)

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