ClinVar Miner

List of variants in gene ZNF408 studied for Inborn genetic diseases

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_024741.3(ZNF408):c.743A>G (p.Asp248Gly) rs146037342 0.00046
NM_024741.3(ZNF408):c.127G>A (p.Val43Ile) rs141693807 0.00034
NM_024741.3(ZNF408):c.2058T>G (p.Phe686Leu) rs35287195 0.00022
NM_024741.3(ZNF408):c.1346G>A (p.Arg449Gln) rs376401300 0.00008
NM_024741.3(ZNF408):c.389C>T (p.Thr130Ile) rs751580055 0.00008
NM_024741.3(ZNF408):c.1007C>T (p.Ser336Leu) rs150368802 0.00006
NM_024741.3(ZNF408):c.1591G>A (p.Asp531Asn) rs560055645 0.00006
NM_024741.3(ZNF408):c.814C>T (p.Pro272Ser) rs138812940 0.00006
NM_024741.3(ZNF408):c.1786C>T (p.Arg596Cys) rs774012371 0.00005
NM_024741.3(ZNF408):c.1888C>T (p.Arg630Trp) rs745529105 0.00005
NM_024741.3(ZNF408):c.403C>T (p.Arg135Trp) rs367608316 0.00004
NM_024741.3(ZNF408):c.1298G>A (p.Gly433Asp) rs780850451 0.00003
NM_024741.3(ZNF408):c.1451G>A (p.Arg484Gln) rs753407197 0.00003
NM_024741.3(ZNF408):c.1574G>A (p.Arg525His) rs143607576 0.00003
NM_024741.3(ZNF408):c.1723G>A (p.Gly575Arg) rs576989115 0.00003
NM_024741.3(ZNF408):c.469G>C (p.Val157Leu) rs560579023 0.00003
NM_024741.3(ZNF408):c.872G>A (p.Ser291Asn) rs777777641 0.00003
NM_024741.3(ZNF408):c.131C>T (p.Pro44Leu) rs199531284 0.00002
NM_024741.3(ZNF408):c.1438C>A (p.Gln480Lys) rs1167211539 0.00002
NM_024741.3(ZNF408):c.1696C>A (p.Leu566Ile) rs762589100 0.00002
NM_024741.3(ZNF408):c.925T>G (p.Leu309Val) rs368603073 0.00002
NM_024741.3(ZNF408):c.1060C>T (p.Arg354Trp) rs749384154 0.00001
NM_024741.3(ZNF408):c.1061G>A (p.Arg354Gln) rs375616892 0.00001
NM_024741.3(ZNF408):c.1220G>A (p.Arg407Gln) rs201645303 0.00001
NM_024741.3(ZNF408):c.1327G>A (p.Gly443Ser) rs1311690533 0.00001
NM_024741.3(ZNF408):c.1339G>A (p.Ala447Thr) rs765506026 0.00001
NM_024741.3(ZNF408):c.1483C>T (p.Pro495Ser) rs140853348 0.00001
NM_024741.3(ZNF408):c.1711C>T (p.Arg571Cys) rs1294823060 0.00001
NM_024741.3(ZNF408):c.1822C>T (p.Arg608Cys) rs760644029 0.00001
NM_024741.3(ZNF408):c.1993G>A (p.Glu665Lys) rs373784613 0.00001
NM_024741.3(ZNF408):c.2008G>A (p.Ala670Thr) rs370145518 0.00001
NM_024741.3(ZNF408):c.290C>T (p.Ser97Phe) rs2064707857 0.00001
NM_024741.3(ZNF408):c.374A>T (p.Gln125Leu) rs772843233 0.00001
NM_024741.3(ZNF408):c.704C>G (p.Pro235Arg) rs764632543 0.00001
NM_024741.3(ZNF408):c.797C>T (p.Pro266Leu) rs542945003 0.00001
NM_024741.3(ZNF408):c.958G>C (p.Ala320Pro) rs2064736929 0.00001
NM_024741.3(ZNF408):c.1049G>A (p.Gly350Glu)
NM_024741.3(ZNF408):c.1058A>C (p.Tyr353Ser)
NM_024741.3(ZNF408):c.1210C>T (p.Arg404Cys) rs1231985813
NM_024741.3(ZNF408):c.124G>C (p.Asp42His)
NM_024741.3(ZNF408):c.134C>G (p.Pro45Arg) rs2502784307
NM_024741.3(ZNF408):c.1493G>T (p.Cys498Phe)
NM_024741.3(ZNF408):c.1522C>T (p.Arg508Trp)
NM_024741.3(ZNF408):c.1564C>T (p.Arg522Cys)
NM_024741.3(ZNF408):c.1670G>T (p.Gly557Val) rs201672624
NM_024741.3(ZNF408):c.1806G>C (p.Leu602Phe)
NM_024741.3(ZNF408):c.1889G>A (p.Arg630Gln) rs138519217
NM_024741.3(ZNF408):c.1889G>C (p.Arg630Pro) rs138519217
NM_024741.3(ZNF408):c.1939C>T (p.Pro647Ser) rs2502797407
NM_024741.3(ZNF408):c.1966C>T (p.Pro656Ser) rs2064747037
NM_024741.3(ZNF408):c.1987A>G (p.Arg663Gly) rs2064747199
NM_024741.3(ZNF408):c.2143G>A (p.Glu715Lys)
NM_024741.3(ZNF408):c.2159C>T (p.Thr720Ile) rs762068273
NM_024741.3(ZNF408):c.215G>T (p.Arg72Leu) rs763576993
NM_024741.3(ZNF408):c.344G>A (p.Gly115Asp) rs1358063669
NM_024741.3(ZNF408):c.703C>T (p.Pro235Ser)
NM_024741.3(ZNF408):c.860G>T (p.Gly287Val) rs2502793210
NM_024741.3(ZNF408):c.886G>C (p.Ala296Pro)
NM_024741.3(ZNF408):c.886G>T (p.Ala296Ser) rs1053683092
NM_024741.3(ZNF408):c.902C>T (p.Pro301Leu) rs1381654753
NM_024741.3(ZNF408):c.952C>T (p.Pro318Ser)
NM_024741.3(ZNF408):c.979G>A (p.Ala327Thr)

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