ClinVar Miner

List of variants in gene STIL studied for not specified

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_001048166.1(STIL):c.2218-17G>A rs2758741 0.01928
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001048166.1(STIL):c.2384-13A>G rs140975915 0.00362
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr) rs75426387 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355 0.00023
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449 0.00008
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317 0.00007
NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser) rs148818578 0.00006
NM_001048166.1(STIL):c.428T>C (p.Val143Ala) rs200768902 0.00006
NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val) rs142210835 0.00003
NM_001048166.1(STIL):c.2880G>A (p.Pro960=) rs774354721 0.00001
NM_001048166.1(STIL):c.1184C>G (p.Ser395Cys) rs1553176425
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048166.1(STIL):c.2383+11dup rs757631449
NM_001048166.1(STIL):c.2795C>G (p.Pro932Arg) rs763308359
NM_001048166.1(STIL):c.3067G>A (p.Val1023Met) rs144586803
NM_001048166.1(STIL):c.311G>T (p.Arg104Leu) rs143587840
NM_001048166.1(STIL):c.3321G>C (p.Gly1107=) rs1553167547
NM_001048166.1(STIL):c.3486T>G (p.Pro1162=) rs2758735
NM_001048166.1(STIL):c.369G>C (p.Leu123Phe) rs1553181461

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