ClinVar Miner

List of variants in gene SPART studied for Troyer syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_001142294.1(SPART):c.-2-10637_-2-10636del rs886050138
NM_001142294.1(SPART):c.-2-10643G>A rs2281864
NM_001142294.1(SPART):c.-2-10651T>G rs886050139
NM_001142294.1(SPART):c.1110del (p.Lys370fs) rs1060499524
NM_015087.5(SPART):c.*1014A>G rs886050134
NM_015087.5(SPART):c.*1456G>A rs562306593
NM_015087.5(SPART):c.*1550A>G rs886050133
NM_015087.5(SPART):c.*1794A>G rs886050132
NM_015087.5(SPART):c.*1799G>A rs9547190
NM_015087.5(SPART):c.*1848A>C rs553638012
NM_015087.5(SPART):c.*1892G>A rs373152101
NM_015087.5(SPART):c.*2123T>C rs78129833
NM_015087.5(SPART):c.*2127_*2130del rs150662490
NM_015087.5(SPART):c.*2150_*2154del rs747194340
NM_015087.5(SPART):c.*2204C>T rs564614485
NM_015087.5(SPART):c.*2256G>A rs886050131
NM_015087.5(SPART):c.*2299T>C rs564428460
NM_015087.5(SPART):c.*2343T>C rs34434389
NM_015087.5(SPART):c.*2454A>T rs74868982
NM_015087.5(SPART):c.*285del rs570720520
NM_015087.5(SPART):c.*446T>C rs190515727
NM_015087.5(SPART):c.*451G>A rs1054149
NM_015087.5(SPART):c.*524A>G rs1054141
NM_015087.5(SPART):c.*608C>T rs1054144
NM_015087.5(SPART):c.*624A>G rs2148049
NM_015087.5(SPART):c.*699_*703GTATT[1] rs886050136
NM_015087.5(SPART):c.*716G>A rs574483995
NM_015087.5(SPART):c.*734T>C rs886050135
NM_015087.5(SPART):c.*817A>T rs7317988
NM_015087.5(SPART):c.*846G>A rs1054152
NM_015087.5(SPART):c.*924C>A rs7333861
NM_015087.5(SPART):c.-118C>A rs528288894
NM_015087.5(SPART):c.-145G>A rs9566108
NM_015087.5(SPART):c.-33C>T rs886050137
NM_015087.5(SPART):c.1053T>C (p.Pro351=) rs878854993
NM_015087.5(SPART):c.1127A>G (p.Asn376Ser) rs368305530
NM_015087.5(SPART):c.1130A>T (p.Lys377Met) rs148672324
NM_015087.5(SPART):c.1155T>G (p.Arg385=) rs140222511
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652
NM_015087.5(SPART):c.1172A>T (p.Asp391Val) rs148833652
NM_015087.5(SPART):c.1227A>G (p.Pro409=) rs1555261871
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys) rs139819321
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393
NM_015087.5(SPART):c.1416T>C (p.Ala472=) rs373274392
NM_015087.5(SPART):c.1470C>T (p.Val490=) rs750472401
NM_015087.5(SPART):c.1512C>T (p.Cys504=) rs376411341
NM_015087.5(SPART):c.1513G>A (p.Val505Ile) rs778801809
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293
NM_015087.5(SPART):c.1745A>T (p.Asn582Ile) rs139085653
NM_015087.5(SPART):c.1782G>A (p.Ala594=) rs201110879
NM_015087.5(SPART):c.1837G>A (p.Val613Met) rs574448043
NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)
NM_015087.5(SPART):c.1939G>A (p.Val647Met) rs146683642
NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) rs143274967
NM_015087.5(SPART):c.1964C>T (p.Thr655Met) rs140800614
NM_015087.5(SPART):c.360A>G (p.Lys120=) rs149730980
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341
NM_015087.5(SPART):c.473_474CT[1] (p.Leu159fs) rs1480709252
NM_015087.5(SPART):c.560A>G (p.Tyr187Cys) rs375284717
NM_015087.5(SPART):c.627G>A (p.Pro209=) rs370385005
NM_015087.5(SPART):c.685C>T (p.Gln229Ter)
NM_015087.5(SPART):c.686A>G (p.Gln229Arg) rs570884857
NM_015087.5(SPART):c.68C>A (p.Ala23Asp) rs753340463
NM_015087.5(SPART):c.720T>A (p.Ser240Arg) rs780452995
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669
NM_015087.5(SPART):c.798C>T (p.Pro266=) rs769573100
NM_015087.5(SPART):c.852G>A (p.Pro284=) rs571222120

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