ClinVar Miner

List of variants in gene SPTLC2 reported as likely benign for not provided

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.850+34G>A rs45613436 0.03385
NM_004863.4(SPTLC2):c.1440-30T>G rs140089337 0.02105
NM_004863.4(SPTLC2):c.1176+98C>T rs117989420 0.01026
NM_004863.4(SPTLC2):c.1570-219C>G rs76689695 0.00928
NM_004863.4(SPTLC2):c.1570-107C>T rs113163668 0.00861
NM_004863.4(SPTLC2):c.956+83A>G rs116670813 0.00709
NM_004863.4(SPTLC2):c.1304-151A>G rs185132192 0.00572
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_004863.4(SPTLC2):c.483-58T>C rs75555387 0.00434
NM_004863.4(SPTLC2):c.1614G>A (p.Lys538=) rs143770506 0.00070
NM_004863.4(SPTLC2):c.612C>T (p.Cys204=) rs115500562 0.00065
NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=) rs149054777 0.00051
NM_004863.4(SPTLC2):c.432C>T (p.Ala144=) rs139381733 0.00037
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_004863.4(SPTLC2):c.957-44C>G rs113823362 0.00023
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00012
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
NM_004863.4(SPTLC2):c.996C>T (p.Ala332=) rs757660579 0.00004
NM_004863.4(SPTLC2):c.1059C>T (p.Gly353=) rs747649289 0.00001
NM_004863.4(SPTLC2):c.936C>T (p.Ile312=) rs966096873 0.00001
NC_000014.9:g.77616818C>A rs115432973
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) rs577436926
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=) rs369523661
NM_004863.4(SPTLC2):c.632-73_632-69del rs371439273
NM_004863.4(SPTLC2):c.851-154C>T

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