ClinVar Miner

List of variants in gene DHX38 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_014003.4(DHX38):c.2487+14T>C rs42544 0.97480
NM_014003.4(DHX38):c.2380-20T>C rs150617 0.92860
NM_014003.4(DHX38):c.1308T>C (p.Ala436=) rs1050363 0.58097
NM_014003.4(DHX38):c.147C>G (p.Leu49=) rs1050361 0.50708
NM_014003.4(DHX38):c.2316C>A (p.Ala772=) rs2074626 0.46156
NM_014003.4(DHX38):c.1698G>A (p.Thr566=) rs2240243 0.45838
NM_014003.4(DHX38):c.69T>C (p.Gly23=) rs11554764 0.04479
NM_014003.4(DHX38):c.1386+17C>T rs117948289 0.01329
NM_014003.4(DHX38):c.1281G>A (p.Pro427=) rs35586337 0.00354
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn) rs145829337 0.00094
NM_014003.4(DHX38):c.198C>T (p.Asp66=) rs147365158 0.00071
NM_014003.4(DHX38):c.923C>T (p.Thr308Met) rs61749038 0.00051
NM_014003.4(DHX38):c.375C>T (p.Ser125=) rs139547116 0.00039
NM_014003.4(DHX38):c.1818C>T (p.Gly606=) rs201129506 0.00019
NM_014003.4(DHX38):c.1661T>C (p.Val554Ala) rs374496350 0.00010
NM_014003.4(DHX38):c.2652C>T (p.Pro884=) rs146025146 0.00010
NM_014003.4(DHX38):c.1044G>A (p.Val348=) rs534306131 0.00009
NM_014003.4(DHX38):c.1122C>T (p.Asn374=) rs148166755 0.00008
NM_014003.4(DHX38):c.1890C>T (p.Asp630=) rs367769997 0.00007
NM_014003.4(DHX38):c.3537C>T (p.Ala1179=) rs141593731 0.00006
NM_014003.4(DHX38):c.591C>T (p.Pro197=) rs763901646 0.00006
NM_014003.4(DHX38):c.1413G>A (p.Ala471=) rs370933306 0.00004
NM_014003.4(DHX38):c.2309C>T (p.Ala770Val) rs755907524 0.00003
NM_014003.4(DHX38):c.338C>T (p.Ala113Val) rs192983504 0.00003
NM_014003.4(DHX38):c.3491G>A (p.Arg1164Gln) rs1051798890 0.00003
NM_014003.4(DHX38):c.423A>T (p.Glu141Asp) rs145090795 0.00003
NM_014003.4(DHX38):c.1002C>T (p.Asp334=) rs202084485 0.00002
NM_014003.4(DHX38):c.1207G>A (p.Ala403Thr) rs771844746 0.00002
NM_014003.4(DHX38):c.1038C>T (p.Asp346=) rs527510105 0.00001
NM_014003.4(DHX38):c.1956C>T (p.Asp652=) rs2042138181 0.00001
NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser) rs1408544161 0.00001
NM_014003.4(DHX38):c.2120G>A (p.Arg707His) rs752762438 0.00001
NM_014003.4(DHX38):c.3294C>T (p.Pro1098=) rs768157673 0.00001
NM_014003.4(DHX38):c.592G>A (p.Glu198Lys) rs774114256 0.00001
NM_014003.4(DHX38):c.696G>A (p.Ser232=) rs556379177 0.00001
NM_014003.4(DHX38):c.1301A>G (p.Lys434Arg)
NM_014003.4(DHX38):c.1620G>A (p.Glu540=)
NM_014003.4(DHX38):c.1879T>A (p.Tyr627Asn)
NM_014003.4(DHX38):c.211AAG[2] (p.Lys73del)
NM_014003.4(DHX38):c.213G>C (p.Lys71Asn)
NM_014003.4(DHX38):c.217A>C (p.Lys73Gln)
NM_014003.4(DHX38):c.2220del (p.Gly741fs)
NM_014003.4(DHX38):c.2242C>G (p.Pro748Ala)
NM_014003.4(DHX38):c.2258T>C (p.Ile753Thr) rs760947148
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser) rs1597445687
NM_014003.4(DHX38):c.2531C>T (p.Pro844Leu)
NM_014003.4(DHX38):c.2635C>T (p.Leu879=)
NM_014003.4(DHX38):c.2646A>C (p.Thr882=)
NM_014003.4(DHX38):c.2703C>G (p.Leu901=)
NM_014003.4(DHX38):c.2742G>A (p.Pro914=)
NM_014003.4(DHX38):c.324A>G (p.Arg108=)
NM_014003.4(DHX38):c.3532C>T (p.Leu1178=)
NM_014003.4(DHX38):c.3578G>A (p.Arg1193His)
NM_014003.4(DHX38):c.401A>G (p.Gln134Arg)
NM_014003.4(DHX38):c.418C>A (p.Arg140=) rs1050362
NM_014003.4(DHX38):c.580A>G (p.Arg194Gly)
NM_014003.4(DHX38):c.598C>G (p.Pro200Ala)
NM_014003.4(DHX38):c.601C>T (p.Arg201Ter)
NM_014003.4(DHX38):c.605A>G (p.His202Arg) rs2144134233
NM_014003.4(DHX38):c.704C>T (p.Pro235Leu)
NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys) rs181471020
NM_014003.4(DHX38):c.742C>T (p.Leu248=)
NM_014003.4(DHX38):c.850T>G (p.Leu284Val)
NM_014003.4(DHX38):c.916T>C (p.Phe306Leu)
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554

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