ClinVar Miner

List of variants in gene SPTLC2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.757-250G>A rs926115 0.95775
NM_004863.4(SPTLC2):c.1177-49G>A rs2178876 0.95724
NM_004863.4(SPTLC2):c.1440-63G>A rs926114 0.95447
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.83233
NM_004863.4(SPTLC2):c.1304-34G>T rs2072672 0.70676
NM_004863.4(SPTLC2):c.632-84T>C rs4903606 0.55835
NM_004863.4(SPTLC2):c.756+333C>T rs11622425 0.55750
NM_004863.4(SPTLC2):c.632-49del rs11344772 0.47249
NM_004863.4(SPTLC2):c.851-30G>C rs2272587 0.46203
NM_004863.4(SPTLC2):c.1303+193A>G rs11159275 0.37574
NM_004863.4(SPTLC2):c.482+223T>A rs1997561 0.34237
NM_004863.4(SPTLC2):c.327+89T>G rs12435993 0.24069
NM_004863.4(SPTLC2):c.851-293G>A rs2272589 0.18363
NM_004863.4(SPTLC2):c.957-148C>A rs7159683 0.17121
NM_004863.4(SPTLC2):c.327+250A>C rs17751923 0.09915
NM_004863.4(SPTLC2):c.632-311C>G rs55776552 0.07824
NM_004863.4(SPTLC2):c.756+69G>C rs76545605 0.07821
NM_004863.4(SPTLC2):c.631+130del rs148802575 0.06725
NM_004863.4(SPTLC2):c.851-321C>T rs17105989 0.06571
NM_004863.4(SPTLC2):c.1304-139C>G rs10132412 0.05456
NM_004863.4(SPTLC2):c.1304-149A>G rs45595936 0.04705
NM_004863.4(SPTLC2):c.957-90C>T rs79502009 0.04577
NM_004863.4(SPTLC2):c.957-132G>A rs12101243 0.03086
NM_004863.4(SPTLC2):c.1177-317G>A rs113608775 0.03077
NM_004863.4(SPTLC2):c.1303+233C>G rs113909970 0.03075
NM_004863.4(SPTLC2):c.328-30A>C rs80060651 0.02916
NM_004863.4(SPTLC2):c.1440-258C>T rs145514029 0.02912
NM_004863.4(SPTLC2):c.328-54T>A rs11849902 0.02854
NM_004863.4(SPTLC2):c.957-245G>A rs114998199 0.02625
NM_004863.4(SPTLC2):c.-43C>T rs7155278 0.02570
NM_004863.4(SPTLC2):c.133-300del rs199932704 0.02515
NM_004863.4(SPTLC2):c.1303+266A>G rs76092557 0.01654
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=) rs9323646 0.00560
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823 0.00430
NM_004863.4(SPTLC2):c.1176+7G>A rs74063297 0.00399
NM_004863.4(SPTLC2):c.1176+28A>G rs115520638 0.00202
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=) rs140041902 0.00055
NM_004863.4(SPTLC2):c.1303+51C>T rs376339745 0.00044
NM_004863.4(SPTLC2):c.*6T>G rs73319080
NM_004863.4(SPTLC2):c.-30G>T rs142320856
NM_004863.4(SPTLC2):c.105AGCCGC[2] (p.Ala41_Ala42del) rs577436926
NM_004863.4(SPTLC2):c.133-101del rs34670650
NM_004863.4(SPTLC2):c.133-221dup rs35139171
NM_004863.4(SPTLC2):c.1569+297_1569+298del rs147314756
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.482+248C>T rs78375844
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.756+144dup rs35086251
NM_004863.4(SPTLC2):c.756+160_756+161del rs35086251
NM_004863.4(SPTLC2):c.756+161del rs35086251
NM_004863.4(SPTLC2):c.851-225T>C rs2272588
NM_004863.4(SPTLC2):c.956+308_956+312del rs67906677

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