ClinVar Miner

List of variants studied for multicentric carpo-tarsal osteolysis with or without nephropathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_005461.5(MAFB):c.*1849C>T rs3577 0.10289
NM_005461.5(MAFB):c.*2008T>A rs56049320 0.10178
NM_005461.5(MAFB):c.-206T>G rs527524576 0.00823
NM_005461.5(MAFB):c.-204_-203del rs201369817 0.00818
NM_005461.5(MAFB):c.-310G>A rs567415398 0.00160
NM_005461.5(MAFB):c.*1737A>G rs532037681 0.00106
NM_005461.5(MAFB):c.*1591T>C rs886056659 0.00076
NM_005461.5(MAFB):c.*1210G>A rs542788257 0.00038
NM_005461.5(MAFB):c.*1255C>T rs573637366 0.00033
NM_005461.5(MAFB):c.-297G>T rs906559486 0.00028
NM_005461.5(MAFB):c.*68G>A rs190300765 0.00023
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu) rs776350709 0.00019
NM_005461.5(MAFB):c.*1803C>T rs779945829 0.00017
NM_005461.5(MAFB):c.-225C>G rs886984053 0.00016
NM_005461.5(MAFB):c.*1314A>G rs533750110 0.00015
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) rs771536349 0.00015
NM_005461.5(MAFB):c.368G>C (p.Ser123Thr) rs767671011 0.00013
NM_005461.5(MAFB):c.*155C>T rs533850442 0.00012
NM_005461.5(MAFB):c.189G>A (p.Pro63=) rs201590858 0.00011
NM_005461.5(MAFB):c.*1787T>C rs749002713 0.00009
NM_005461.5(MAFB):c.-171C>A rs886056676 0.00006
NM_005461.5(MAFB):c.-211A>C rs922316776 0.00006
NM_005461.5(MAFB):c.-338A>G rs886056678 0.00006
NM_005461.5(MAFB):c.-82T>G rs1016762347 0.00006
NM_005461.5(MAFB):c.745C>A (p.Arg249=) rs561320614 0.00006
NM_005461.5(MAFB):c.*367G>A rs911053528 0.00005
NM_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 0.00004
NM_005461.5(MAFB):c.*152G>C rs553723079 0.00003
NM_005461.5(MAFB):c.*30C>A rs780982442 0.00003
NM_005461.5(MAFB):c.*410G>A rs886056668 0.00003
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_005461.5(MAFB):c.*1226C>T rs886056662 0.00002
NM_005461.5(MAFB):c.253C>A (p.Leu85Met) rs377639854 0.00002
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn) rs909242045 0.00002
NM_005461.5(MAFB):c.*1679C>T rs886056657 0.00001
NM_005461.5(MAFB):c.*1690G>A rs369074467 0.00001
NM_005461.5(MAFB):c.*1751C>T rs886056656 0.00001
NM_005461.5(MAFB):c.*175G>A rs1024656977 0.00001
NM_005461.5(MAFB):c.*229A>G rs886056671 0.00001
NM_005461.5(MAFB):c.*309A>T rs886056670 0.00001
NM_005461.5(MAFB):c.*415G>A rs756438342 0.00001
NM_005461.5(MAFB):c.*976G>A rs886056664 0.00001
NM_005461.5(MAFB):c.-229C>T rs886056677 0.00001
NM_005461.5(MAFB):c.-77C>G rs886056675 0.00001
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.329C>A (p.Ala110Glu) rs1478496155 0.00001
NM_005461.5(MAFB):c.399C>T (p.His133=) rs762729675 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 0.00001
NM_005461.5(MAFB):c.648C>T (p.Leu216=) rs753634759 0.00001
NM_005461.5(MAFB):c.*1019A>C rs545693248
NM_005461.5(MAFB):c.*1019A>G rs545693248
NM_005461.5(MAFB):c.*1171A>C rs766501828
NM_005461.5(MAFB):c.*1212_*1213insGAGGA rs886056663
NM_005461.5(MAFB):c.*1433A>G rs886056661
NM_005461.5(MAFB):c.*1519C>A rs185930615
NM_005461.5(MAFB):c.*1519C>G rs185930615
NM_005461.5(MAFB):c.*1520C>G rs148352161
NM_005461.5(MAFB):c.*1551G>A rs886056660
NM_005461.5(MAFB):c.*1592del rs3215567
NM_005461.5(MAFB):c.*1592dup rs3215567
NM_005461.5(MAFB):c.*209A>C rs886056672
NM_005461.5(MAFB):c.*377G>C rs886056669
NM_005461.5(MAFB):c.*503TGTC[1] rs201579991
NM_005461.5(MAFB):c.*565C>T rs1986852028
NM_005461.5(MAFB):c.*64C>T rs886056673
NM_005461.5(MAFB):c.*791C>G rs764184408
NM_005461.5(MAFB):c.*795G>T rs886056667
NM_005461.5(MAFB):c.*881G>T rs886056666
NM_005461.5(MAFB):c.*929del rs11482617
NM_005461.5(MAFB):c.*929dup rs11482617
NM_005461.5(MAFB):c.-130C>T rs565077274
NM_005461.5(MAFB):c.-138G>T rs755784104
NM_005461.5(MAFB):c.-222G>T rs933615052
NM_005461.5(MAFB):c.-269G>C rs1986918651
NM_005461.5(MAFB):c.-75C>G rs574807151
NM_005461.5(MAFB):c.-76C>A rs1046996071
NM_005461.5(MAFB):c.106C>G (p.Leu36Val)
NM_005461.5(MAFB):c.112C>G (p.Arg38Gly)
NM_005461.5(MAFB):c.127G>A (p.Gly43Ser)
NM_005461.5(MAFB):c.136T>G (p.Cys46Gly)
NM_005461.5(MAFB):c.153A>G (p.Pro51=) rs755631858
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) rs730880014
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg) rs1600429281
NM_005461.5(MAFB):c.176C>G (p.Pro59Arg)
NM_005461.5(MAFB):c.176C>T (p.Pro59Leu)
NM_005461.5(MAFB):c.184A>C (p.Thr62Pro) rs387907004
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) rs387907004
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) rs1600429262
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe) rs1600429244
NM_005461.5(MAFB):c.19A>C (p.Met7Leu)
NM_005461.5(MAFB):c.203C>T (p.Pro68Leu)
NM_005461.5(MAFB):c.208T>G (p.Ser70Ala) rs387907005
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) rs387907006
NM_005461.5(MAFB):c.211C>T (p.Pro71Ser) rs387907007
NM_005461.5(MAFB):c.212C>T (p.Pro71Leu) rs387907008
NM_005461.5(MAFB):c.224C>A (p.Pro75Gln) rs1986898886
NM_005461.5(MAFB):c.227C>A (p.Thr76Asn)
NM_005461.5(MAFB):c.22G>C (p.Gly8Arg)
NM_005461.5(MAFB):c.252T>G (p.Asp84Glu)
NM_005461.5(MAFB):c.340T>C (p.Ser114Pro)
NM_005461.5(MAFB):c.392A>C (p.His131Pro)
NM_005461.5(MAFB):c.405T>A (p.His135Gln)
NM_005461.5(MAFB):c.420C>T (p.His140=) rs1986890636
NM_005461.5(MAFB):c.445G>A (p.Gly149Ser)
NM_005461.5(MAFB):c.525C>G (p.Ser175Arg) rs886056674
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005461.5(MAFB):c.529G>T (p.Ala177Ser)
NM_005461.5(MAFB):c.539C>A (p.Ala180Glu)
NM_005461.5(MAFB):c.62T>C (p.Val21Ala)
NM_005461.5(MAFB):c.769T>A (p.Tyr257Asn)
NM_005461.5(MAFB):c.847G>C (p.Glu283Gln)
NM_005461.5(MAFB):c.863C>T (p.Ala288Val)
NM_005461.5(MAFB):c.865C>A (p.Arg289Ser)
NM_005461.5(MAFB):c.886G>A (p.Val296Ile)
NM_005461.5(MAFB):c.961T>C (p.Phe321Leu)
NM_005461.5(MAFB):c.970T>C (p.Ter324Arg)

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