ClinVar Miner

List of variants studied for Stromme syndrome by Genome-Nilou Lab

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Total variants: 30
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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.3244C>T (p.His1082Tyr) rs61732031 0.01115
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys) rs61732022 0.01110
NM_016343.4(CENPF):c.2101A>G (p.Met701Val) rs3795524
NM_016343.4(CENPF):c.2444G>A (p.Arg815His) rs3795522
NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys) rs7289

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