ClinVar Miner

List of variants in gene CENPF reported as uncertain significance for Stromme syndrome

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.3617A>G (p.Tyr1206Cys) rs144237457 0.00181
NM_016343.4(CENPF):c.5908A>G (p.Met1970Val) rs7544538 0.00096
NM_016343.4(CENPF):c.6830G>C (p.Gly2277Ala) rs147776688 0.00094
NM_016343.4(CENPF):c.4355A>G (p.Asn1452Ser) rs140952090 0.00041
NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln) rs373295400 0.00028
NM_016343.4(CENPF):c.6228G>C (p.Gln2076His) rs571947577 0.00010
NM_016343.4(CENPF):c.7352A>G (p.Asn2451Ser) rs138083875 0.00007
NM_016343.4(CENPF):c.4364A>G (p.Asn1455Ser) rs376658652 0.00005
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro) rs3748694 0.00004
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) rs535739714 0.00004
NM_016343.4(CENPF):c.7647A>C (p.Gln2549His) rs777730944 0.00003
NM_016343.4(CENPF):c.2010G>T (p.Met670Ile) rs780637562 0.00002
NM_016343.4(CENPF):c.3424A>G (p.Met1142Val) rs778072776 0.00001
NM_016343.4(CENPF):c.37C>T (p.Pro13Ser) rs564086731 0.00001
NM_016343.4(CENPF):c.7000C>T (p.Leu2334Phe) rs780360553 0.00001
NM_016343.4(CENPF):c.7307C>T (p.Ser2436Leu) rs771199196 0.00001
NM_016343.4(CENPF):c.8159A>G (p.Gln2720Arg) rs2102574173 0.00001
NM_016343.4(CENPF):c.1068G>A (p.Lys356=) rs2528351348
NM_016343.4(CENPF):c.1241G>A (p.Cys414Tyr)
NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile) rs1028498197
NM_016343.4(CENPF):c.2936_2937del (p.Leu979fs) rs1558182805
NM_016343.4(CENPF):c.3242A>T (p.Glu1081Val) rs1658115070
NM_016343.4(CENPF):c.407A>G (p.Asp136Gly) rs145538443
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
NM_016343.4(CENPF):c.6046C>G (p.Leu2016Val)
NM_016343.4(CENPF):c.6687_6695delinsTTTAAATGA (p.Asp2230_Leu2232delinsLeuAsnGlu)
NM_016343.4(CENPF):c.6802C>A (p.Leu2268Ile) rs764134401
NM_016343.4(CENPF):c.7983+2_7983+3insG rs780992243
NM_016343.4(CENPF):c.8385G>A (p.Met2795Ile) rs753288669
NM_016343.4(CENPF):c.9227C>A (p.Pro3076His)

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