ClinVar Miner

List of variants in gene SPART reported as uncertain significance for Troyer syndrome

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_015087.5(SPART):c.*1150A>G rs7336020 0.00735
NM_015087.5(SPART):c.-8G>A rs567106287 0.00498
NM_015087.5(SPART):c.*644G>A rs560213662 0.00282
NM_015087.5(SPART):c.*2035T>C rs79095999 0.00220
NM_015087.5(SPART):c.*2299T>C rs564428460 0.00187
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511 0.00165
NM_015087.5(SPART):c.*2454A>T rs74868982 0.00153
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698 0.00072
NM_015087.5(SPART):c.*2023T>A rs535209329 0.00053
NM_015087.5(SPART):c.*980T>G rs748159557 0.00053
NM_015087.5(SPART):c.*1456G>A rs562306593 0.00039
NM_015087.5(SPART):c.-118C>A rs528288894 0.00026
NM_015087.5(SPART):c.*285del rs570720520 0.00024
NM_015087.5(SPART):c.*964C>T rs956267323 0.00021
NM_015087.5(SPART):c.*1848A>C rs553638012 0.00019
NM_015087.5(SPART):c.*1892G>A rs373152101 0.00019
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_015087.5(SPART):c.*108T>C rs764365567 0.00017
NM_015087.5(SPART):c.*1751A>T rs575603612 0.00016
NM_015087.5(SPART):c.1745A>T (p.Asn582Ile) rs139085653 0.00016
NM_015087.5(SPART):c.360A>G (p.Lys120=) rs149730980 0.00014
NM_015087.4(SPART):c.-261T>G rs886050139 0.00011
NM_015087.5(SPART):c.*1187A>G rs1219621714 0.00011
NM_015087.5(SPART):c.1769C>T (p.Ala590Val) rs192704075 0.00011
NM_015087.5(SPART):c.852G>A (p.Pro284=) rs571222120 0.00010
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_015087.5(SPART):c.627G>A (p.Pro209=) rs370385005 0.00009
NM_015087.5(SPART):c.*2280T>C rs1038604361 0.00007
NM_015087.5(SPART):c.*1847G>C rs540414622 0.00006
NM_015087.5(SPART):c.*758A>G rs187517838 0.00006
NM_015087.5(SPART):c.*1550A>G rs886050133 0.00005
NM_015087.5(SPART):c.123A>C (p.Glu41Asp) rs749355386 0.00005
NM_015087.5(SPART):c.466C>T (p.Pro156Ser) rs202174672 0.00005
NM_015087.5(SPART):c.552T>C (p.Thr184=) rs770465973 0.00005
NM_015087.5(SPART):c.*2053C>T rs1225309487 0.00004
NM_015087.5(SPART):c.*446T>C rs190515727 0.00004
NM_015087.5(SPART):c.*1267C>T rs967757427 0.00003
NM_015087.5(SPART):c.*1794A>G rs886050132 0.00003
NM_015087.5(SPART):c.*715C>T rs541775963 0.00003
NM_015087.5(SPART):c.*716G>A rs574483995 0.00003
NM_015087.5(SPART):c.*734T>C rs886050135 0.00003
NM_015087.5(SPART):c.1964C>T (p.Thr655Met) rs140800614 0.00003
NM_015087.5(SPART):c.1203C>T (p.His401=) rs1385388981 0.00002
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) rs143274967 0.00002
NM_015087.5(SPART):c.292G>A (p.Gly98Ser) rs139744724 0.00002
NM_015087.5(SPART):c.*1014A>G rs886050134 0.00001
NM_015087.5(SPART):c.*2256G>A rs886050131 0.00001
NM_015087.5(SPART):c.1093T>C (p.Ser365Pro) rs369101005 0.00001
NM_015087.5(SPART):c.1399G>A (p.Val467Met) rs763966969 0.00001
NM_015087.4(SPART):c.-249_-248TG[1] rs886050138
NM_015087.5(SPART):c.*1165A>C rs552064790
NM_015087.5(SPART):c.*1624C>T rs149048779
NM_015087.5(SPART):c.*1645C>T rs538969812
NM_015087.5(SPART):c.*1686G>A rs932843231
NM_015087.5(SPART):c.*1908A>G rs1011386098
NM_015087.5(SPART):c.*2071T>C rs929009865
NM_015087.5(SPART):c.*2150_*2154del rs747194340
NM_015087.5(SPART):c.*2204C>T rs564614485
NM_015087.5(SPART):c.*2456T>C rs1880019584
NM_015087.5(SPART):c.*2717C>A rs1879999493
NM_015087.5(SPART):c.*699GTATT[1] rs886050136
NM_015087.5(SPART):c.1470C>T (p.Val490=) rs750472401
NM_015087.5(SPART):c.1624G>A (p.Ala542Thr) rs746153229
NM_015087.5(SPART):c.1795G>A (p.Val599Ile) rs150163770
NM_015087.5(SPART):c.389A>T (p.Gln130Leu)
NM_015087.5(SPART):c.450A>G (p.Ala150=) rs769396462
NM_015087.5(SPART):c.475_476del (p.Leu159fs) rs1480709252
NM_015087.5(SPART):c.686A>G (p.Gln229Arg) rs570884857
NM_015087.5(SPART):c.810+6C>T rs1883821175
NM_015087.5(SPART):c.988A>G (p.Met330Val) rs1399213398

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