ClinVar Miner

List of variants in gene STIL studied for Inborn genetic diseases

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355 0.00023
NM_001048166.1(STIL):c.1374C>G (p.His458Gln) rs527253805 0.00014
NM_001048166.1(STIL):c.199C>T (p.Arg67Cys) rs542287422 0.00010
NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn) rs369376550 0.00010
NM_001048166.1(STIL):c.26G>A (p.Arg9Gln) rs369825711 0.00006
NM_001048166.1(STIL):c.1588C>T (p.Pro530Ser) rs765984208 0.00004
NM_001048166.1(STIL):c.3010A>G (p.Arg1004Gly) rs370465985 0.00003
NM_001048166.1(STIL):c.2542G>A (p.Val848Ile) rs587784449 0.00001
NM_001048166.1(STIL):c.653T>G (p.Leu218Trp) rs1236526270 0.00001
NM_001048166.1(STIL):c.1006A>G (p.Thr336Ala)
NM_001048166.1(STIL):c.1119T>G (p.Asn373Lys)
NM_001048166.1(STIL):c.1147T>A (p.Leu383Ile)
NM_001048166.1(STIL):c.1150T>A (p.Ser384Thr)
NM_001048166.1(STIL):c.115A>G (p.Thr39Ala)
NM_001048166.1(STIL):c.1189G>T (p.Val397Phe)
NM_001048166.1(STIL):c.1252T>C (p.Ser418Pro)
NM_001048166.1(STIL):c.1339A>G (p.Met447Val)
NM_001048166.1(STIL):c.1360C>A (p.Pro454Thr)
NM_001048166.1(STIL):c.1418A>C (p.Lys473Thr)
NM_001048166.1(STIL):c.1892A>G (p.Asp631Gly)
NM_001048166.1(STIL):c.2096C>T (p.Pro699Leu)
NM_001048166.1(STIL):c.2134G>C (p.Asp712His)
NM_001048166.1(STIL):c.2251C>T (p.Pro751Ser)
NM_001048166.1(STIL):c.2327C>T (p.Ala776Val)
NM_001048166.1(STIL):c.2405C>T (p.Ala802Val)
NM_001048166.1(STIL):c.2428G>A (p.Asp810Asn)
NM_001048166.1(STIL):c.2629G>A (p.Val877Ile)
NM_001048166.1(STIL):c.263A>C (p.Glu88Ala)
NM_001048166.1(STIL):c.266A>G (p.Asp89Gly)
NM_001048166.1(STIL):c.2863A>G (p.Lys955Glu)
NM_001048166.1(STIL):c.3067G>A (p.Val1023Met) rs144586803
NM_001048166.1(STIL):c.3151A>C (p.Met1051Leu)
NM_001048166.1(STIL):c.3398G>A (p.Ser1133Asn)
NM_001048166.1(STIL):c.3525C>A (p.Asp1175Glu)
NM_001048166.1(STIL):c.379A>G (p.Lys127Glu)
NM_001048166.1(STIL):c.3836A>G (p.Lys1279Arg)
NM_001048166.1(STIL):c.453+3G>A
NM_001048166.1(STIL):c.520C>A (p.His174Asn)
NM_001048166.1(STIL):c.869A>C (p.Glu290Ala)
NM_001048166.1(STIL):c.916A>G (p.Met306Val)

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