ClinVar Miner

List of variants studied for Familial encephalopathy with neuroserpin inclusion bodies by Illumina Laboratory Services, Illumina

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001122752.2(SERPINI1):c.-19+92G>A rs9835352 0.16968
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) rs34582040 0.13147
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740 0.13145
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) rs2229697 0.13143
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908 0.01092
NM_001122752.2(SERPINI1):c.250+13A>G rs77880879 0.00659
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=) rs61761891 0.00319
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309 0.00308
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307 0.00240
NM_001122752.2(SERPINI1):c.*197T>C rs532826558 0.00181
NM_007217.4(PDCD10):c.-438G>C rs546722173 0.00162
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00142
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) rs140116256 0.00112
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811 0.00078
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306 0.00073
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His) rs139808176 0.00063
NM_001122752.2(SERPINI1):c.-19+117A>G rs145045884 0.00043
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val) rs144637103 0.00043
NM_001122752.2(SERPINI1):c.-23G>A rs886058166 0.00019
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val) rs746127233 0.00003
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255 0.00002
NC_000003.12:g.167825585dup rs547381979
NM_001122752.2(SERPINI1):c.*172T>A rs886058170
NM_001122752.2(SERPINI1):c.*87A>G rs1712486520
NM_001122752.2(SERPINI1):c.-19+22G>T rs1559989168
NM_001122752.2(SERPINI1):c.-19+48C>T rs886058167
NM_001122752.2(SERPINI1):c.-19+6C>T rs562830304
NM_001122752.2(SERPINI1):c.-84GGAGC[3] rs886058165
NM_001122752.2(SERPINI1):c.1067-6C>T rs759360650
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val) rs1727567949
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser) rs1172732406

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