ClinVar Miner

List of variants studied for Stromme syndrome

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln) rs335524 0.51917
NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly) rs438034 0.51075
NM_016343.4(CENPF):c.2890C>T (p.Leu964=) rs3795521 0.36604
NM_016343.4(CENPF):c.33G>A (p.Gly11=) rs2070064 0.36558
NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp) rs3748697 0.36093
NM_016343.4(CENPF):c.1482C>G (p.His494Gln) rs2070065 0.26083
NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr) rs2666839 0.25667
NM_016343.4(CENPF):c.5310T>A (p.His1770Gln) rs3748693 0.20011
NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg) rs3795518 0.10931
NM_016343.4(CENPF):c.1806A>G (p.Leu602=) rs2070066 0.10927
NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala) rs3790647 0.07277
NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly) rs3790646 0.07126
NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn) rs3748692 0.07122
NM_016343.4(CENPF):c.7386A>G (p.Glu2462=) rs3748698 0.07116
NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val) rs3748696 0.07113
NM_016343.4(CENPF):c.7581G>A (p.Leu2527=) rs3790648 0.07113
NM_016343.4(CENPF):c.7611T>C (p.Leu2537=) rs3790649 0.07111
NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr) rs3748695 0.07107
NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg) rs12058704 0.07101
NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu) rs3795523 0.06854
NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile) rs12067133 0.06848
NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp) rs3795519 0.06847
NM_016343.4(CENPF):c.4461T>G (p.Leu1487=) rs3795516 0.06845
NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser) rs3795517 0.06844
NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu) rs7533166 0.03766
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=) rs74557452 0.01439
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) rs61732031 0.01115
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys) rs61732022 0.01110
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys) rs144237457 0.00181
NM_016343.4(CENPF):c.4355A>G (p.Asn1452Ser) rs140952090 0.00041
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter) rs375014198 0.00008
NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser) rs138083875 0.00006
NM_016343.4(CENPF):c.2734G>T (p.Glu912Ter) rs200976140 0.00005
NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter) rs376076886 0.00004
NM_016343.4(CENPF):c.7647A>C (p.Gln2549His) rs777730944 0.00004
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) rs535739714 0.00004
NM_016343.4(CENPF):c.7307C>T (p.Ser2436Leu) rs771199196 0.00002
NM_016343.4(CENPF):c.37C>T (p.Pro13Ser) rs564086731 0.00001
NM_016343.4(CENPF):c.574-2A>C rs376767238 0.00001
NM_016343.4(CENPF):c.7000C>T (p.Leu2334Phe) rs780360553 0.00001
NM_016343.4(CENPF):c.7639G>T (p.Glu2547Ter) rs779120472 0.00001
NM_016343.4(CENPF):c.9200C>T (p.Thr3067Met) rs752309258 0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter) rs869312748 0.00001
NM_016343.4(CENPF):c.1026del (p.Glu342fs) rs1064795215
NM_016343.4(CENPF):c.1068G>A (p.Lys356=)
NM_016343.4(CENPF):c.1195-2A>G rs1571707321
NM_016343.4(CENPF):c.1241G>A (p.Cys414Tyr)
NM_016343.4(CENPF):c.1323+1G>A rs1657782821
NM_016343.4(CENPF):c.171_199del (p.Asn57fs) rs757575602
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.2010G>T (p.Met670Ile)
NM_016343.4(CENPF):c.2101A>G (p.Met701Val) rs3795524
NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile) rs1028498197
NM_016343.4(CENPF):c.2444G>A (p.Arg815His) rs3795522
NM_016343.4(CENPF):c.2513C>A (p.Ser838Ter)
NM_016343.4(CENPF):c.2936_2937del (p.Leu979fs) rs1558182805
NM_016343.4(CENPF):c.2983C>T (p.Gln995Ter)
NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val) rs1658115070
NM_016343.4(CENPF):c.3424A>G (p.Met1142Val) rs778072776
NM_016343.4(CENPF):c.346C>G (p.Gln116Glu) rs2102531522
NM_016343.4(CENPF):c.3514_3515del (p.Glu1172fs)
NM_016343.4(CENPF):c.3614_3617del (p.Ser1205fs)
NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)
NM_016343.4(CENPF):c.3764C>A (p.Ser1255Ter)
NM_016343.4(CENPF):c.407A>G (p.Asp136Gly) rs145538443
NM_016343.4(CENPF):c.4189_4192del (p.Asp1397fs) rs776697039
NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser) rs376658652
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln)
NM_016343.4(CENPF):c.4986+1G>C
NM_016343.4(CENPF):c.5920dup (p.Thr1974fs) rs757531591
NM_016343.4(CENPF):c.6046C>G (p.Leu2016Val)
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)
NM_016343.4(CENPF):c.6228G>C (p.Gln2076His) rs571947577
NM_016343.4(CENPF):c.6687_6695delinsTTTAAATGA (p.Asp2230_Leu2232delinsLeuAsnGlu)
NM_016343.4(CENPF):c.6802C>A (p.Leu2268Ile)
NM_016343.4(CENPF):c.7983+2_7983+3insG rs780992243
NM_016343.4(CENPF):c.8033dup (p.Asp2679fs) rs886041436
NM_016343.4(CENPF):c.8159A>G (p.Gln2720Arg)
NM_016343.4(CENPF):c.8161-1G>A
NM_016343.4(CENPF):c.8161-1G>C
NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile) rs753288669
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_016343.4(CENPF):c.9227C>A (p.Pro3076His)
NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys) rs7289

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