ClinVar Miner

List of variants in gene DCHS1 studied for Inborn genetic diseases

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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_003737.4(DCHS1):c.2975G>A (p.Gly992Glu) rs145749053 0.00144
NM_003737.4(DCHS1):c.2755C>T (p.Leu919Phe) rs148008642 0.00118
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_003737.4(DCHS1):c.9609C>G (p.Pro3203=) rs143630838 0.00098
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) rs146434035 0.00089
NM_003737.4(DCHS1):c.2548C>T (p.Arg850Cys) rs79559386 0.00078
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) rs145373149 0.00038
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00036
NM_003737.4(DCHS1):c.3370G>A (p.Val1124Met) rs200822079 0.00033
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) rs139849372 0.00030
NM_003737.4(DCHS1):c.7435G>A (p.Ala2479Thr) rs200993350 0.00023
NM_003737.4(DCHS1):c.6365-6G>A rs139304730 0.00022
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) rs143753116 0.00020
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln) rs753287108 0.00019
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_003737.4(DCHS1):c.1457C>T (p.Ala486Val) rs147698268 0.00016
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
NM_003737.4(DCHS1):c.6097G>A (p.Asp2033Asn) rs145562528 0.00014
NM_003737.4(DCHS1):c.340C>T (p.Arg114Cys) rs200060711 0.00010
NM_003737.4(DCHS1):c.3538C>G (p.Leu1180Val) rs200372389 0.00010
NM_003737.4(DCHS1):c.7076G>A (p.Arg2359His) rs200536613 0.00010
NM_003737.4(DCHS1):c.7646G>A (p.Arg2549Gln) rs535854670 0.00010
NM_003737.4(DCHS1):c.2123G>A (p.Arg708His) rs763176856 0.00009
NM_003737.4(DCHS1):c.2668A>G (p.Asn890Asp) rs201782946 0.00009
NM_003737.4(DCHS1):c.325C>T (p.Arg109Cys) rs371390544 0.00008
NM_003737.4(DCHS1):c.6380G>A (p.Arg2127His) rs142577975 0.00008
NM_003737.4(DCHS1):c.2768C>T (p.Ser923Leu) rs368647467 0.00007
NM_003737.4(DCHS1):c.6509G>A (p.Arg2170His) rs147106756 0.00007
NM_003737.4(DCHS1):c.1521G>C (p.Gln507His) rs748736655 0.00006
NM_003737.4(DCHS1):c.3316T>G (p.Ser1106Ala) rs146557906 0.00006
NM_003737.4(DCHS1):c.6061C>T (p.Arg2021Cys) rs372587898 0.00005
NM_003737.4(DCHS1):c.2852G>A (p.Arg951Gln) rs760791115 0.00004
NM_003737.4(DCHS1):c.3769A>G (p.Thr1257Ala) rs143368111 0.00004
NM_003737.4(DCHS1):c.5918G>A (p.Gly1973Asp) rs745850825 0.00004
NM_003737.4(DCHS1):c.8666G>A (p.Arg2889Gln) rs372734296 0.00004
NM_003737.4(DCHS1):c.9728G>C (p.Gly3243Ala) rs778012430 0.00004
NM_003737.4(DCHS1):c.2851C>T (p.Arg951Trp) rs748550898 0.00003
NM_003737.4(DCHS1):c.4350G>T (p.Glu1450Asp) rs758007512 0.00003
NM_003737.4(DCHS1):c.8315C>T (p.Pro2772Leu) rs778615533 0.00003
NM_003737.4(DCHS1):c.2635C>T (p.Arg879Trp) rs139750490 0.00002
NM_003737.4(DCHS1):c.3684C>A (p.Asp1228Glu) rs750998296 0.00002
NM_003737.4(DCHS1):c.4708C>T (p.Arg1570Trp) rs750696447 0.00002
NM_003737.4(DCHS1):c.6134G>A (p.Arg2045His) rs374221703 0.00002
NM_003737.4(DCHS1):c.944A>G (p.Gln315Arg) rs554631257 0.00002
NM_003737.4(DCHS1):c.4303G>A (p.Ala1435Thr) rs781099697 0.00001
NM_003737.4(DCHS1):c.5852G>A (p.Arg1951His) rs528656024 0.00001
NM_003737.4(DCHS1):c.6791C>T (p.Thr2264Met) rs752746132 0.00001
NM_003737.4(DCHS1):c.6922G>A (p.Val2308Met) rs761710120 0.00001
NM_003737.4(DCHS1):c.7394G>A (p.Arg2465Gln) rs773889155 0.00001
NM_003737.4(DCHS1):c.932C>T (p.Thr311Met) rs773823269 0.00001
NM_003737.4(DCHS1):c.9554G>A (p.Arg3185Gln) rs779058249 0.00001
NM_003737.4(DCHS1):c.9707G>A (p.Arg3236His) rs1418163020 0.00001
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) rs758453554 0.00001
NM_003737.4(DCHS1):c.9883G>C (p.Glu3295Gln) rs773543020 0.00001
NM_003737.4(DCHS1):c.1286G>A (p.Arg429Gln)
NM_003737.4(DCHS1):c.1402A>C (p.Asn468His)
NM_003737.4(DCHS1):c.1421G>A (p.Arg474His)
NM_003737.4(DCHS1):c.1441C>T (p.Pro481Ser)
NM_003737.4(DCHS1):c.1618T>G (p.Leu540Val)
NM_003737.4(DCHS1):c.1732T>C (p.Phe578Leu)
NM_003737.4(DCHS1):c.1765G>A (p.Glu589Lys)
NM_003737.4(DCHS1):c.1925G>A (p.Arg642Gln)
NM_003737.4(DCHS1):c.2062C>T (p.Arg688Trp)
NM_003737.4(DCHS1):c.2078G>C (p.Ser693Thr)
NM_003737.4(DCHS1):c.215C>T (p.Thr72Met)
NM_003737.4(DCHS1):c.2252G>A (p.Arg751Gln)
NM_003737.4(DCHS1):c.2459G>A (p.Arg820His)
NM_003737.4(DCHS1):c.2468C>T (p.Pro823Leu)
NM_003737.4(DCHS1):c.2489G>C (p.Gly830Ala)
NM_003737.4(DCHS1):c.2626G>A (p.Ala876Thr)
NM_003737.4(DCHS1):c.2845C>T (p.His949Tyr)
NM_003737.4(DCHS1):c.2926C>G (p.Pro976Ala)
NM_003737.4(DCHS1):c.2966A>C (p.Gln989Pro)
NM_003737.4(DCHS1):c.2974G>C (p.Gly992Arg)
NM_003737.4(DCHS1):c.3049A>T (p.Thr1017Ser)
NM_003737.4(DCHS1):c.3170G>A (p.Arg1057Gln)
NM_003737.4(DCHS1):c.326G>A (p.Arg109His)
NM_003737.4(DCHS1):c.3410A>G (p.Asn1137Ser)
NM_003737.4(DCHS1):c.341G>A (p.Arg114His)
NM_003737.4(DCHS1):c.3463C>T (p.Arg1155Cys)
NM_003737.4(DCHS1):c.346C>T (p.Arg116Cys)
NM_003737.4(DCHS1):c.3602T>C (p.Val1201Ala)
NM_003737.4(DCHS1):c.3742G>A (p.Glu1248Lys)
NM_003737.4(DCHS1):c.3748G>A (p.Gly1250Arg)
NM_003737.4(DCHS1):c.3787C>T (p.Leu1263Phe)
NM_003737.4(DCHS1):c.3832C>G (p.Pro1278Ala)
NM_003737.4(DCHS1):c.384A>C (p.Glu128Asp)
NM_003737.4(DCHS1):c.4135T>C (p.Phe1379Leu)
NM_003737.4(DCHS1):c.4222C>T (p.Arg1408Cys)
NM_003737.4(DCHS1):c.4376G>A (p.Arg1459His)
NM_003737.4(DCHS1):c.4405A>C (p.Asn1469His)
NM_003737.4(DCHS1):c.440G>C (p.Arg147Pro)
NM_003737.4(DCHS1):c.4687G>C (p.Ala1563Pro) rs781737138
NM_003737.4(DCHS1):c.4747C>G (p.Arg1583Gly) rs148882462
NM_003737.4(DCHS1):c.479C>T (p.Thr160Ile)
NM_003737.4(DCHS1):c.4838C>T (p.Ala1613Val)
NM_003737.4(DCHS1):c.4924G>C (p.Val1642Leu)
NM_003737.4(DCHS1):c.503G>A (p.Arg168His)
NM_003737.4(DCHS1):c.5043C>G (p.Asn1681Lys) rs762274197
NM_003737.4(DCHS1):c.509C>T (p.Ala170Val)
NM_003737.4(DCHS1):c.5213G>A (p.Arg1738Gln)
NM_003737.4(DCHS1):c.521G>A (p.Arg174His)
NM_003737.4(DCHS1):c.5261C>T (p.Ala1754Val)
NM_003737.4(DCHS1):c.5295C>G (p.Asp1765Glu)
NM_003737.4(DCHS1):c.5303C>A (p.Thr1768Asn)
NM_003737.4(DCHS1):c.5531C>T (p.Thr1844Ile)
NM_003737.4(DCHS1):c.5542G>A (p.Ala1848Thr)
NM_003737.4(DCHS1):c.5551C>T (p.His1851Tyr)
NM_003737.4(DCHS1):c.5686G>A (p.Ala1896Thr)
NM_003737.4(DCHS1):c.575G>A (p.Arg192Gln)
NM_003737.4(DCHS1):c.5768C>T (p.Pro1923Leu)
NM_003737.4(DCHS1):c.5824A>T (p.Thr1942Ser)
NM_003737.4(DCHS1):c.5827A>G (p.Thr1943Ala)
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
NM_003737.4(DCHS1):c.6199C>T (p.Arg2067Cys)
NM_003737.4(DCHS1):c.6233G>A (p.Arg2078His) rs144463486
NM_003737.4(DCHS1):c.6262G>T (p.Val2088Phe)
NM_003737.4(DCHS1):c.6374C>T (p.Thr2125Ile)
NM_003737.4(DCHS1):c.644G>A (p.Arg215Gln)
NM_003737.4(DCHS1):c.6463A>G (p.Thr2155Ala)
NM_003737.4(DCHS1):c.6466G>A (p.Val2156Met)
NM_003737.4(DCHS1):c.6520C>T (p.Pro2174Ser)
NM_003737.4(DCHS1):c.6550C>T (p.Arg2184Trp)
NM_003737.4(DCHS1):c.6650G>T (p.Arg2217Leu)
NM_003737.4(DCHS1):c.683A>G (p.Tyr228Cys)
NM_003737.4(DCHS1):c.6977G>A (p.Arg2326His)
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) rs141901540
NM_003737.4(DCHS1):c.7439C>T (p.Pro2480Leu)
NM_003737.4(DCHS1):c.7463G>A (p.Arg2488His)
NM_003737.4(DCHS1):c.7549G>T (p.Ala2517Ser)
NM_003737.4(DCHS1):c.7737G>T (p.Gln2579His)
NM_003737.4(DCHS1):c.7868A>G (p.His2623Arg)
NM_003737.4(DCHS1):c.7870G>A (p.Val2624Ile)
NM_003737.4(DCHS1):c.7962G>C (p.Glu2654Asp)
NM_003737.4(DCHS1):c.8044C>G (p.Pro2682Ala)
NM_003737.4(DCHS1):c.8051G>C (p.Gly2684Ala)
NM_003737.4(DCHS1):c.805G>A (p.Ala269Thr)
NM_003737.4(DCHS1):c.8093A>G (p.Asp2698Gly)
NM_003737.4(DCHS1):c.8312T>C (p.Val2771Ala)
NM_003737.4(DCHS1):c.8323T>C (p.Tyr2775His)
NM_003737.4(DCHS1):c.8357G>A (p.Gly2786Asp)
NM_003737.4(DCHS1):c.8366A>G (p.Asp2789Gly)
NM_003737.4(DCHS1):c.8401G>A (p.Val2801Met)
NM_003737.4(DCHS1):c.8594C>T (p.Thr2865Ile)
NM_003737.4(DCHS1):c.860A>G (p.Asn287Ser)
NM_003737.4(DCHS1):c.8638G>A (p.Gly2880Arg)
NM_003737.4(DCHS1):c.8665C>T (p.Arg2889Trp)
NM_003737.4(DCHS1):c.8851C>T (p.Leu2951Phe)
NM_003737.4(DCHS1):c.8885G>A (p.Arg2962Gln)
NM_003737.4(DCHS1):c.8971C>T (p.Arg2991Trp)
NM_003737.4(DCHS1):c.9250C>T (p.Pro3084Ser)
NM_003737.4(DCHS1):c.9278G>A (p.Arg3093Gln)
NM_003737.4(DCHS1):c.9325G>C (p.Glu3109Gln)
NM_003737.4(DCHS1):c.9422C>T (p.Pro3141Leu)
NM_003737.4(DCHS1):c.9482A>C (p.Tyr3161Ser)
NM_003737.4(DCHS1):c.956C>T (p.Pro319Leu)
NM_003737.4(DCHS1):c.9595A>G (p.Ile3199Val)
NM_003737.4(DCHS1):c.9709T>C (p.Ser3237Pro)
NM_003737.4(DCHS1):c.9713C>G (p.Pro3238Arg)
NM_003737.4(DCHS1):c.9787G>A (p.Ala3263Thr)
NM_003737.4(DCHS1):c.9790C>T (p.Arg3264Cys)
NM_003737.4(DCHS1):c.9844C>G (p.Leu3282Val)

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