ClinVar Miner

List of variants in gene DHX30 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_138615.3(DHX30):c.3183C>T (p.Thr1061=) rs9871162 0.04907
NM_138615.3(DHX30):c.2930-4C>T rs537095382 0.00005
NM_138615.3(DHX30):c.2575+5G>A rs1347930503 0.00001
NM_138615.3(DHX30):c.1118C>T (p.Ala373Val) rs377228431
NM_138615.3(DHX30):c.1123G>C (p.Glu375Gln)
NM_138615.3(DHX30):c.115A>G (p.Ile39Val)
NM_138615.3(DHX30):c.1325C>T (p.Thr442Ile) rs1294217709
NM_138615.3(DHX30):c.1348C>T (p.His450Tyr)
NM_138615.3(DHX30):c.1397G>T (p.Arg466Leu)
NM_138615.3(DHX30):c.1472C>G (p.Pro491Arg) rs2107134437
NM_138615.3(DHX30):c.1504C>T (p.Arg502Trp) rs771350114
NM_138615.3(DHX30):c.1511G>C (p.Ser504Thr) rs775225208
NM_138615.3(DHX30):c.1517A>G (p.Glu506Gly) rs2107134729
NM_138615.3(DHX30):c.1613G>A (p.Gly538Asp)
NM_138615.3(DHX30):c.1672G>A (p.Val558Met)
NM_138615.3(DHX30):c.1745A>C (p.Asn582Thr)
NM_138615.3(DHX30):c.1756C>G (p.Arg586Gly) rs1309241437
NM_138615.3(DHX30):c.1772G>A (p.Ser591Asn) rs138105650
NM_138615.3(DHX30):c.1814G>T (p.Gly605Val) rs2107136627
NM_138615.3(DHX30):c.1910A>G (p.His637Arg) rs2549294309
NM_138615.3(DHX30):c.2026C>T (p.Pro676Ser) rs2549295370
NM_138615.3(DHX30):c.2029G>A (p.Gly677Arg)
NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg) rs2037670513
NM_138615.3(DHX30):c.2129T>C (p.Met710Thr) rs2549296263
NM_138615.3(DHX30):c.2140_2141delinsGC (p.Lys714Ala) rs2107141217
NM_138615.3(DHX30):c.2266C>T (p.Arg756Cys) rs760564997
NM_138615.3(DHX30):c.2307_2312delinsCAAGAGCCAATGTG (p.Trp770fs) rs2107143092
NM_138615.3(DHX30):c.2308T>C (p.Trp770Arg)
NM_138615.3(DHX30):c.2314T>G (p.Ser772Ala) rs2549297027
NM_138615.3(DHX30):c.2320G>A (p.Ala774Thr)
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_138615.3(DHX30):c.2354G>A (p.Arg785His) rs1553706799
NM_138615.3(DHX30):c.2393G>A (p.Ser798Asn) rs768490052
NM_138615.3(DHX30):c.2423T>A (p.Val808Glu) rs2549297240
NM_138615.3(DHX30):c.2453A>C (p.Asn818Thr) rs2549297295
NM_138615.3(DHX30):c.2551G>A (p.Ala851Thr)
NM_138615.3(DHX30):c.258A>G (p.Lys86=) rs2036683996
NM_138615.3(DHX30):c.25A>T (p.Lys9Ter) rs2549243181
NM_138615.3(DHX30):c.2653A>G (p.Lys885Glu)
NM_138615.3(DHX30):c.2680C>T (p.Arg894Cys)
NM_138615.3(DHX30):c.2711C>G (p.Ser904Cys)
NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) rs1553707019
NM_138615.3(DHX30):c.28+2T>C
NM_138615.3(DHX30):c.2942A>C (p.Gln981Pro) rs2549303346
NM_138615.3(DHX30):c.2950G>C (p.Glu984Gln)
NM_138615.3(DHX30):c.2954A>C (p.Asn985Thr)
NM_138615.3(DHX30):c.3001G>A (p.Ala1001Thr) rs2107165900
NM_138615.3(DHX30):c.3011_3018del (p.Gln1004fs) rs2107166059
NM_138615.3(DHX30):c.3028GAG[3] (p.Glu1013del)
NM_138615.3(DHX30):c.3052G>A (p.Val1018Met) rs2107166633
NM_138615.3(DHX30):c.305A>G (p.Tyr102Cys)
NM_138615.3(DHX30):c.3064G>A (p.Gly1022Ser) rs2037866416
NM_138615.3(DHX30):c.3107C>A (p.Thr1036Asn) rs2549305442
NM_138615.3(DHX30):c.3131A>G (p.Asn1044Ser) rs2037922870
NM_138615.3(DHX30):c.314A>G (p.Lys105Arg)
NM_138615.3(DHX30):c.3214C>T (p.Arg1072Ter) rs2549307285
NM_138615.3(DHX30):c.3238G>A (p.Val1080Ile) rs2107178075
NM_138615.3(DHX30):c.3262G>A (p.Val1088Ile) rs368476953
NM_138615.3(DHX30):c.3263_3266del (p.Val1088fs) rs2549307457
NM_138615.3(DHX30):c.3469C>G (p.Leu1157Val)
NM_138615.3(DHX30):c.3513_3556del (p.Leu1171_Leu1172insTer)
NM_138615.3(DHX30):c.3532_3542delinsTAGT (p.Leu1178_Gly1181delinsTer) rs2107188030
NM_138615.3(DHX30):c.3539G>A (p.Arg1180Gln) rs1286671771
NM_138615.3(DHX30):c.3579C>A (p.Asp1193Glu) rs773244355
NM_138615.3(DHX30):c.451G>T (p.Asp151Tyr) rs1421998947
NM_138615.3(DHX30):c.492del (p.Trp165fs) rs2549283049
NM_138615.3(DHX30):c.536G>T (p.Gly179Val) rs2549283231
NM_138615.3(DHX30):c.647A>G (p.His216Arg) rs2549283566
NM_138615.3(DHX30):c.677C>T (p.Ser226Phe) rs755339541
NM_138615.3(DHX30):c.797T>C (p.Met266Thr)
NM_138615.3(DHX30):c.808A>G (p.Thr270Ala) rs2549287458
NM_138615.3(DHX30):c.854C>A (p.Pro285His) rs2107119450
NM_138615.3(DHX30):c.873dup (p.Ala292fs) rs2549287555
NM_138615.3(DHX30):c.903G>C (p.Glu301Asp)

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