ClinVar Miner

List of variants in gene SPART reported as likely benign for Troyer syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_015087.4(SPART):c.-253G>A rs2281864
NM_015087.5(SPART):c.*1799G>A rs9547190
NM_015087.5(SPART):c.*2123T>C rs78129833
NM_015087.5(SPART):c.*2127_*2130del rs150662490
NM_015087.5(SPART):c.*2343T>C rs34434389
NM_015087.5(SPART):c.*524A>G rs1054141
NM_015087.5(SPART):c.*608C>T rs1054144
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.-145G>A rs9566108
NM_015087.5(SPART):c.1053T>C (p.Pro351=) rs878854993
NM_015087.5(SPART):c.1130A>T (p.Lys377Met) rs148672324
NM_015087.5(SPART):c.1227A>G (p.Pro409=) rs1555261871
NM_015087.5(SPART):c.1416T>C (p.Ala472=) rs373274392
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.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.627G>A (p.Pro209=) rs370385005
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669
NM_015087.5(SPART):c.798C>T (p.Pro266=) rs769573100

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