ClinVar Miner

List of variants in gene FANCE, LOC129996245 studied for anemia

Included ClinVar conditions (292):
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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_021922.3(FANCE):c.-126T>A rs930863473 0.00062
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_021922.3(FANCE):c.-105C>T rs886061326 0.00035
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) rs950301098 0.00021
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_021922.3(FANCE):c.-197C>T rs45570533 0.00019
NM_021922.3(FANCE):c.-19G>C rs13215706 0.00019
NM_021922.3(FANCE):c.-167C>T rs911947663 0.00017
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) rs927154227 0.00010
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) rs1225225979 0.00006
NM_021922.3(FANCE):c.17C>T (p.Ala6Val) rs1019486578 0.00006
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_021922.3(FANCE):c.84C>T (p.Leu28=) rs1160645936 0.00004
NM_021922.3(FANCE):c.-132A>G rs886061325 0.00003
NM_021922.3(FANCE):c.199C>A (p.Leu67Met) rs1161408735 0.00003
NM_021922.3(FANCE):c.248+5G>A rs1027705914 0.00003
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile) rs1405929258 0.00002
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp) rs1767154137 0.00001
NM_021922.3(FANCE):c.136G>T (p.Val46Leu) rs1366722396 0.00001
NM_021922.3(FANCE):c.148C>T (p.Leu50=) rs1278828834 0.00001
NM_021922.3(FANCE):c.15C>T (p.Asp5=) rs1298974698 0.00001
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser) rs890865684 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.-162G>C rs979441521
NM_021922.3(FANCE):c.-182G>A rs886061324
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del) rs2150885287
NM_021922.3(FANCE):c.-32A>T rs1767142098
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro) rs2150885696
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) rs1767153896
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser) rs892819655
NM_021922.3(FANCE):c.128G>T (p.Gly43Val) rs1767154137
NM_021922.3(FANCE):c.12G>A (p.Pro4=) rs2150885362
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
NM_021922.3(FANCE):c.138G>A (p.Val46=) rs2150885789
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) rs1225225979
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro) rs1767156443
NM_021922.3(FANCE):c.14A>T (p.Asp5Val) rs1767146702
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) rs2150885915
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr) rs1561787173
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser) rs1561787173
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr) rs1581696567
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg) rs2150885964
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe) rs2150885989
NM_021922.3(FANCE):c.18G>T (p.Ala6=) rs962145261
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
NM_021922.3(FANCE):c.199C>T (p.Leu67=) rs1161408735
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) rs1767159493
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
NM_021922.3(FANCE):c.209del (p.Glu70fs)
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
NM_021922.3(FANCE):c.222G>C (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.222G>T (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) rs1309426375
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser) rs587778335
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
NM_021922.3(FANCE):c.239G>A (p.Arg80His) rs1243363612
NM_021922.3(FANCE):c.248+11G>A
NM_021922.3(FANCE):c.248+11G>C
NM_021922.3(FANCE):c.248+13C>T
NM_021922.3(FANCE):c.248+14C>A
NM_021922.3(FANCE):c.248+19C>T
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>C
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro) rs1767163490
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) rs956659254
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp) rs1045892220
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1]) rs780106496
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) rs1767152512
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu) rs924383249
NM_021922.3(FANCE):c.96G>T (p.Ala32=)

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