ClinVar Miner

List of variants in gene SPART reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_015087.5(SPART):c.-3+215T>C rs1341484 0.99999
NM_015087.5(SPART):c.1288+212C>T rs912926 0.98663
NM_001142294.2(SPART):c.-51G>A rs4287440 0.69537
NM_001142295.1(SPART):c.-202G>C rs9531842 0.24821
NM_015087.5(SPART):c.-145G>A rs9566108 0.24276
NM_015087.4(SPART):c.-253G>A rs2281864 0.24249
NM_015087.5(SPART):c.1733+112G>C rs35914861 0.23921
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_015087.5(SPART):c.-2-282A>G rs9547326 0.23388
NM_015087.5(SPART):c.-2-774T>C rs9575933 0.22658
NM_015087.5(SPART):c.1733+67A>G rs114639111 0.02544
NM_015087.5(SPART):c.1289-73A>T rs118086924 0.00895
NM_015087.5(SPART):c.1289-163G>T rs116062374 0.00504
NM_015087.5(SPART):c.-8G>A rs567106287 0.00498
NM_015087.5(SPART):c.1483+75T>C rs150058229 0.00384
NM_015087.5(SPART):c.1733+164C>T rs536285127 0.00356
NM_015087.5(SPART):c.-3+170C>A rs533331588 0.00329
NM_015087.5(SPART):c.1165-311T>C rs114549724 0.00277
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00170
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00121
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015087.5(SPART):c.1939G>A (p.Val647Met) rs146683642 0.00082
NM_015087.5(SPART):c.363C>T (p.Asp121=) rs149393698 0.00070
NM_015087.5(SPART):c.1689C>T (p.Ile563=) rs201030352 0.00011
NM_015087.5(SPART):c.1769C>T (p.Ala590Val) rs192704075 0.00011
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_015087.5(SPART):c.862T>C (p.Cys288Arg) rs771147428 0.00006
NM_015087.5(SPART):c.1028A>C (p.Glu343Ala) rs746750857 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_015087.5(SPART):c.1139G>A (p.Arg380His) rs956021462 0.00002
NM_015087.5(SPART):c.1354G>C (p.Gly452Arg) rs770460735 0.00001
NM_015087.5(SPART):c.68C>A (p.Ala23Asp) rs753340463 0.00001
NM_015087.5(SPART):c.928G>A (p.Val310Ile) rs759847798 0.00001
NM_015087.5(SPART):c.-3+39G>T rs138503205
NM_015087.5(SPART):c.1110del (p.Lys370fs) rs1060499524
NM_015087.5(SPART):c.1615A>G (p.Met539Val)
NM_015087.5(SPART):c.1734-158C>T rs145153876
NM_015087.5(SPART):c.1930A>G (p.Asn644Asp) rs2137251573
NM_015087.5(SPART):c.511C>A (p.Pro171Thr)
NM_015087.5(SPART):c.696del (p.Phe232fs) rs770560051
NM_015087.5(SPART):c.696dup (p.Val233fs) rs770560051

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