ClinVar Miner

List of variants in gene MTTP reported as uncertain significance for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_000253.3(MTTP):c.*1044G>T rs886058965
NM_000253.3(MTTP):c.*1118C>T rs144013236
NM_000253.3(MTTP):c.*279C>G rs115807483
NM_000253.3(MTTP):c.*382T>C rs556994625
NM_000253.3(MTTP):c.*41A>G rs886058959
NM_000253.3(MTTP):c.*454dup rs545365701
NM_000253.3(MTTP):c.*490_*494del rs886058963
NM_000253.3(MTTP):c.*517A>T rs886058964
NM_000253.3(MTTP):c.*55G>C rs192882987
NM_000253.3(MTTP):c.*694A>C rs187658213
NM_000253.3(MTTP):c.*82G>A rs886058960
NM_000253.3(MTTP):c.*989T>C rs183510498
NM_000253.3(MTTP):c.*98T>A rs886058961
NM_000253.3(MTTP):c.-149C>A rs886058955
NM_000253.3(MTTP):c.-153C>G rs886058954
NM_000253.3(MTTP):c.-205G>A rs886058953
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.-28T>C rs886058956
NM_000253.3(MTTP):c.-54C>T rs181769817
NM_000253.3(MTTP):c.-6G>A rs41275707
NM_000253.3(MTTP):c.-82C>T rs767201629
NM_000253.3(MTTP):c.-84T>C rs761717058
NM_000253.3(MTTP):c.1016C>A (p.Ala339Glu) rs137956833
NM_000253.3(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_000253.3(MTTP):c.1023A>G (p.Lys341=) rs145724674
NM_000253.3(MTTP):c.1477G>T (p.Ala493Ser) rs758939873
NM_000253.3(MTTP):c.1769+3A>G rs375993709
NM_000253.3(MTTP):c.1888A>G (p.Thr630Ala) rs368679444
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.2041G>A (p.Glu681Lys) rs886058958
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2167G>A (p.Asp723Asn) rs371023325
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.394-7C>T rs368989581
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.660T>C (p.Tyr220=) rs113557405
NM_000253.3(MTTP):c.695C>T (p.Ala232Val) rs748108500
NM_000253.3(MTTP):c.799T>C (p.Leu267=) rs7672497
NM_000253.3(MTTP):c.833A>G (p.Lys278Arg) rs886058957
NM_000253.3(MTTP):c.901T>C (p.Cys301Arg) rs759706918

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