ClinVar Miner

List of variants studied for anemia (disease) by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000096.3(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.2(FANCA):c.826+5_826+9del rs797045570
NM_000135.3(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.3(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.3(FANCA):c.2151+1G>A rs1555548428
NM_000135.3(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.3(FANCA):c.2601+1G>T rs1188581065
NM_000135.3(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000253.3(MTTP):c.708_709del (p.His236Glnfs) rs1553926818
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_001022.3(RPS19):c.356+3A>C rs1555841379
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001099274.2(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001363.4(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_002582.3(PARN):c.1257dup (p.Asn420Terfs) rs942538351
NM_002582.3(PARN):c.24delT (p.Phe8Leufs) rs1555512179
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.235_236delCT (p.Leu79Glufs) rs587778514
NM_005373.2(MPL):c.972del (p.Arg325Glufs) rs770457041
NM_015506.2(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_018062.3(FANCL):c.1007_1009delTAT (p.Ile336_Cys337delinsSer) rs747253294
NM_024675.3(PALB2):c.757_758delCT (p.Leu253Ilefs) rs180177092
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3442del (p.His1148Thrfs) rs1555814400
NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_033084.4(FANCD2):c.1201del (p.Arg401Glyfs) rs1553608812
NM_182916.2(TRNT1):c.1252dupA (p.Ser418Lysfs) rs876661298
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.579_580delCCinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NR_001566.1(TERC):n.306T>G rs1553915591
NR_001566.1(TERC):n.443C>A rs1553915577

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