ClinVar Miner

List of variants in gene TRNT1 reported as likely benign for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) rs187921784 0.00106
NM_182916.3(TRNT1):c.862T>A (p.Phe288Ile) rs147986219 0.00071
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
NM_182916.3(TRNT1):c.513T>C (p.Asn171=) rs190423145 0.00036
NM_182916.3(TRNT1):c.343-14G>A rs373630283 0.00034
NM_182916.3(TRNT1):c.462T>G (p.Thr154=) rs528296646 0.00029
NM_182916.3(TRNT1):c.148+14A>G rs374743708 0.00025
NM_182916.3(TRNT1):c.803-6C>T rs183382145 0.00024
NM_182916.3(TRNT1):c.1057-5C>T rs111642741 0.00019
NM_182916.3(TRNT1):c.482-16C>G rs200787934 0.00019
NM_182916.3(TRNT1):c.482-3dup rs766154756 0.00017
NM_182916.3(TRNT1):c.148+17C>T rs200220844 0.00011
NM_182916.3(TRNT1):c.1057-4G>A rs150530824 0.00007
NM_182916.3(TRNT1):c.149-19T>G rs3762748 0.00006
NM_182916.3(TRNT1):c.975T>C (p.Phe325=) rs372604723 0.00005
NM_182916.3(TRNT1):c.1026A>G (p.Pro342=) rs767388512 0.00004
NM_182916.3(TRNT1):c.149-5C>T rs200056840 0.00004
NM_182916.3(TRNT1):c.171C>T (p.His57=) rs760080058 0.00004
NM_182916.3(TRNT1):c.630C>T (p.Asp210=) rs143629126 0.00004
NM_182916.3(TRNT1):c.759T>C (p.His253=) rs373038908 0.00004
NM_182916.3(TRNT1):c.482-9A>G rs766414708 0.00003
NM_182916.3(TRNT1):c.780T>C (p.Asp260=) rs150433086 0.00003
NM_182916.3(TRNT1):c.282G>A (p.Gln94=) rs527886866 0.00002
NM_182916.3(TRNT1):c.324C>T (p.His108=) rs773050420 0.00002
NM_182916.3(TRNT1):c.885T>C (p.Leu295=) rs747603797 0.00002
NM_182916.3(TRNT1):c.1017T>C (p.Ser339=) rs1325737127 0.00001
NM_182916.3(TRNT1):c.1035C>T (p.Pro345=) rs199673739 0.00001
NM_182916.3(TRNT1):c.1056+12C>G rs376137909 0.00001
NM_182916.3(TRNT1):c.1155A>G (p.Pro385=) rs779471673 0.00001
NM_182916.3(TRNT1):c.1236A>G (p.Arg412=) rs1006625149 0.00001
NM_182916.3(TRNT1):c.1296G>A (p.Lys432=) rs1014393756 0.00001
NM_182916.3(TRNT1):c.149-16T>C rs766739333 0.00001
NM_182916.3(TRNT1):c.149-9T>C rs1705382741 0.00001
NM_182916.3(TRNT1):c.27C>T (p.His9=) rs776254990 0.00001
NM_182916.3(TRNT1):c.285G>A (p.Ser95=) rs768744806 0.00001
NM_182916.3(TRNT1):c.297G>A (p.Arg99=) rs1239457572 0.00001
NM_182916.3(TRNT1):c.342+11A>G rs779037398 0.00001
NM_182916.3(TRNT1):c.342+12G>T rs1202757381 0.00001
NM_182916.3(TRNT1):c.342+9A>G rs1235151154 0.00001
NM_182916.3(TRNT1):c.435G>A (p.Gln145=) rs753701052 0.00001
NM_182916.3(TRNT1):c.45T>C (p.Arg15=) rs759180902 0.00001
NM_182916.3(TRNT1):c.481+20C>T rs575404057 0.00001
NM_182916.3(TRNT1):c.482-14T>C rs1352587455 0.00001
NM_182916.3(TRNT1):c.482-20C>T rs773153767 0.00001
NM_182916.3(TRNT1):c.4C>T (p.Leu2=) rs559472880 0.00001
NM_182916.3(TRNT1):c.609-18G>A rs758866961 0.00001
NM_182916.3(TRNT1):c.750T>C (p.His250=) rs996651581 0.00001
NM_182916.3(TRNT1):c.933G>A (p.Leu311=) rs1575066937 0.00001
NM_182916.3(TRNT1):c.93G>A (p.Lys31=) rs141005872 0.00001
NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)
NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)
NM_182916.3(TRNT1):c.1047C>T (p.Phe349=)
NM_182916.3(TRNT1):c.1056+13T>G
NM_182916.3(TRNT1):c.1056+14A>T
NM_182916.3(TRNT1):c.1056+4_1056+7dup rs759496973
NM_182916.3(TRNT1):c.1056+6TA[2] rs1706140312
NM_182916.3(TRNT1):c.1057-16T>G
NM_182916.3(TRNT1):c.1057-7C>T rs368078167
NM_182916.3(TRNT1):c.1057-8A>G
NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)
NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)
NM_182916.3(TRNT1):c.1110A>G (p.Gly370=) rs1706172038
NM_182916.3(TRNT1):c.1125A>G (p.Leu375=) rs2126038121
NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)
NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)
NM_182916.3(TRNT1):c.120T>G (p.Leu40=)
NM_182916.3(TRNT1):c.1219C>T (p.Leu407=) rs1315353435
NM_182916.3(TRNT1):c.1281T>C (p.Leu427=) rs2126038514
NM_182916.3(TRNT1):c.1284G>T (p.Leu428=) rs2126038544
NM_182916.3(TRNT1):c.148+12G>A rs1342768108
NM_182916.3(TRNT1):c.148+15T>C rs2126002342
NM_182916.3(TRNT1):c.148+20_148+29del
NM_182916.3(TRNT1):c.148+7G>A
NM_182916.3(TRNT1):c.149-10C>G rs1247543296
NM_182916.3(TRNT1):c.15G>A (p.Leu5=)
NM_182916.3(TRNT1):c.168T>C (p.Asn56=)
NM_182916.3(TRNT1):c.198G>A (p.Val66=) rs2126017403
NM_182916.3(TRNT1):c.222G>A (p.Lys74=)
NM_182916.3(TRNT1):c.261T>C (p.Thr87=)
NM_182916.3(TRNT1):c.270G>A (p.Lys90=)
NM_182916.3(TRNT1):c.285G>T (p.Ser95=)
NM_182916.3(TRNT1):c.288T>C (p.Ala96=) rs2126017561
NM_182916.3(TRNT1):c.339C>T (p.Ala113=) rs2126017687
NM_182916.3(TRNT1):c.342+10A>C rs771121037
NM_182916.3(TRNT1):c.342+17A>T rs1705398977
NM_182916.3(TRNT1):c.343-16A>G
NM_182916.3(TRNT1):c.343-20C>G
NM_182916.3(TRNT1):c.36G>A (p.Val12=) rs1704814779
NM_182916.3(TRNT1):c.384T>C (p.Asp128=) rs2126023030
NM_182916.3(TRNT1):c.414A>T (p.Val138=)
NM_182916.3(TRNT1):c.444G>A (p.Ala148=)
NM_182916.3(TRNT1):c.462T>C (p.Thr154=) rs528296646
NM_182916.3(TRNT1):c.478T>C (p.Leu160=)
NM_182916.3(TRNT1):c.481+15T>C
NM_182916.3(TRNT1):c.482-5A>G rs879788444
NM_182916.3(TRNT1):c.482-7T>C
NM_182916.3(TRNT1):c.482-9A>C
NM_182916.3(TRNT1):c.522A>G (p.Glu174=)
NM_182916.3(TRNT1):c.54T>C (p.Ser18=)
NM_182916.3(TRNT1):c.555A>C (p.Gly185=)
NM_182916.3(TRNT1):c.567G>A (p.Gln189=)
NM_182916.3(TRNT1):c.598A>C (p.Arg200=)
NM_182916.3(TRNT1):c.608+7A>G rs2126031354
NM_182916.3(TRNT1):c.609-4G>C
NM_182916.3(TRNT1):c.609-7C>T
NM_182916.3(TRNT1):c.60G>A (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.60G>T (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.624T>A (p.Ile208=) rs367981406
NM_182916.3(TRNT1):c.63C>T (p.Cys21=) rs1307913419
NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)
NM_182916.3(TRNT1):c.693T>A (p.Ala231=) rs2126034848
NM_182916.3(TRNT1):c.747C>T (p.Asn249=) rs2126034966
NM_182916.3(TRNT1):c.756T>C (p.Asn252=) rs2126034983
NM_182916.3(TRNT1):c.768C>T (p.His256=) rs1411916026
NM_182916.3(TRNT1):c.774C>T (p.Ile258=)
NM_182916.3(TRNT1):c.795T>C (p.Pro265=) rs1174186377
NM_182916.3(TRNT1):c.798T>C (p.Tyr266=)
NM_182916.3(TRNT1):c.79C>T (p.Leu27=)
NM_182916.3(TRNT1):c.802+15T>C
NM_182916.3(TRNT1):c.802+16A>C
NM_182916.3(TRNT1):c.802+16A>G rs755030575
NM_182916.3(TRNT1):c.802+18dup
NM_182916.3(TRNT1):c.802+19G>A
NM_182916.3(TRNT1):c.802+19G>C rs2126035131
NM_182916.3(TRNT1):c.802+20T>C
NM_182916.3(TRNT1):c.802+20T>G rs2126035135
NM_182916.3(TRNT1):c.802+22_802+25del rs758901089
NM_182916.3(TRNT1):c.803-10G>A
NM_182916.3(TRNT1):c.803-10G>T rs776053995
NM_182916.3(TRNT1):c.803-14T>C
NM_182916.3(TRNT1):c.803-17T>C
NM_182916.3(TRNT1):c.816T>C (p.Asn272=) rs2126036642
NM_182916.3(TRNT1):c.81A>T (p.Leu27=)
NM_182916.3(TRNT1):c.837C>T (p.Asp279=)
NM_182916.3(TRNT1):c.843C>T (p.Val281=)
NM_182916.3(TRNT1):c.852T>C (p.Asn284=)
NM_182916.3(TRNT1):c.876A>G (p.Pro292=)
NM_182916.3(TRNT1):c.886T>C (p.Leu296=)
NM_182916.3(TRNT1):c.894A>G (p.Ser298=) rs772847879
NM_182916.3(TRNT1):c.906A>G (p.Val302=)
NM_182916.3(TRNT1):c.912T>C (p.Asp304=) rs2126036829
NM_182916.3(TRNT1):c.931T>C (p.Leu311=) rs2126036862
NM_182916.3(TRNT1):c.948A>C (p.Ala316=) rs1705805
NM_182916.3(TRNT1):c.993A>G (p.Lys331=)

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