ClinVar Miner

List of variants in gene SMARCE1 studied for not provided

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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_003079.5(SMARCE1):c.714+99G>A rs11654834 0.47332
NM_003079.5(SMARCE1):c.*110C>T rs757412 0.20378
NM_003079.5(SMARCE1):c.715-208A>G rs16966018 0.13104
NM_003079.5(SMARCE1):c.238-218C>T rs8070145 0.11138
NM_003079.5(SMARCE1):c.237+188G>A rs8075684 0.10758
NM_003079.5(SMARCE1):c.816+173C>G rs35695383 0.03105
NM_003079.5(SMARCE1):c.-45-7A>T rs759870374 0.02803
NM_003079.5(SMARCE1):c.1028-176A>G rs115785968 0.02568
NM_003079.5(SMARCE1):c.541+80A>T rs80319663 0.02145
NM_003079.5(SMARCE1):c.541+309A>G rs145090511 0.01424
NM_003079.5(SMARCE1):c.817-226G>A rs117227765 0.01416
NM_003079.5(SMARCE1):c.156+191A>G rs113326396 0.00888
NM_003079.5(SMARCE1):c.541+253C>T rs17557879 0.00711
NM_003079.5(SMARCE1):c.714+191T>C rs76906925 0.00705
NM_003079.5(SMARCE1):c.541+254G>A rs111551348 0.00594
NM_003079.5(SMARCE1):c.237+30G>A rs113265224 0.00574
NM_003079.5(SMARCE1):c.238-327C>T rs76095746 0.00574
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003079.5(SMARCE1):c.542-83G>A rs114978886 0.00397
NM_003079.5(SMARCE1):c.714+185A>G rs148230428 0.00364
NM_003079.5(SMARCE1):c.542-195C>A rs7210265 0.00352
NM_003079.5(SMARCE1):c.817-62A>C rs144902719 0.00344
NM_003079.5(SMARCE1):c.369+12G>T rs58739414 0.00232
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=) rs149613910 0.00041
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His) rs201577008 0.00007
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=) rs773059312 0.00003
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=) rs746320191 0.00003
NM_003079.5(SMARCE1):c.443G>A (p.Arg148His) rs755039445 0.00002
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=) rs769584665 0.00002
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly) rs201158885 0.00002
NM_003079.5(SMARCE1):c.1015C>G (p.Pro339Ala) rs1025768618 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 0.00001
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val) rs781353760 0.00001
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val) rs751165188 0.00001
NM_003079.5(SMARCE1):c.238-12T>C rs529233633 0.00001
NM_003079.5(SMARCE1):c.26C>T (p.Pro9Leu) rs1415603265 0.00001
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=) rs771523560 0.00001
NM_003079.5(SMARCE1):c.795A>G (p.Ser265=) rs1193419924 0.00001
NM_003079.5(SMARCE1):c.-45-2A>T rs1377199841
NM_003079.5(SMARCE1):c.-45-8dup
NM_003079.5(SMARCE1):c.-6T>C rs2144015625
NM_003079.5(SMARCE1):c.1018A>T (p.Met340Leu)
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1063C>A (p.Gln355Lys)
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
NM_003079.5(SMARCE1):c.1096G>A (p.Asp366Asn) rs1270890372
NM_003079.5(SMARCE1):c.1121T>C (p.Val374Ala) rs1597741256
NM_003079.5(SMARCE1):c.116A>G (p.Tyr39Cys)
NM_003079.5(SMARCE1):c.1186G>C (p.Val396Leu) rs767236696
NM_003079.5(SMARCE1):c.1195C>G (p.Pro399Ala) rs2037060453
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys) rs62622817
NM_003079.5(SMARCE1):c.156+1G>A rs1567848929
NM_003079.5(SMARCE1):c.156+279_156+280del rs147503027
NM_003079.5(SMARCE1):c.156+27C>T
NM_003079.5(SMARCE1):c.157-6_157-5delinsAA rs1064796712
NM_003079.5(SMARCE1):c.223A>G (p.Arg75Gly)
NM_003079.5(SMARCE1):c.237+200del rs149262381
NM_003079.5(SMARCE1):c.266C>T (p.Pro89Leu)
NM_003079.5(SMARCE1):c.267T>G (p.Pro89=)
NM_003079.5(SMARCE1):c.274A>C (p.Lys92Gln) rs2143997424
NM_003079.5(SMARCE1):c.280T>C (p.Trp94Arg) rs1085307924
NM_003079.5(SMARCE1):c.29C>T (p.Pro10Leu)
NM_003079.5(SMARCE1):c.301G>C (p.Gly101Arg) rs2143997384
NM_003079.5(SMARCE1):c.311G>C (p.Trp104Ser) rs397509407
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003079.5(SMARCE1):c.319C>G (p.Leu107Val) rs1555605789
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=) rs1597746306
NM_003079.5(SMARCE1):c.352G>A (p.Glu118Lys) rs1131691457
NM_003079.5(SMARCE1):c.43C>A (p.Pro15Thr)
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=) rs1282104211
NM_003079.5(SMARCE1):c.48A>C (p.Ala16=)
NM_003079.5(SMARCE1):c.500G>C (p.Gly167Ala)
NM_003079.5(SMARCE1):c.51+1G>T rs2144015376
NM_003079.5(SMARCE1):c.51+241dup rs35008210
NM_003079.5(SMARCE1):c.512T>C (p.Met171Thr)
NM_003079.5(SMARCE1):c.52-3C>A
NM_003079.5(SMARCE1):c.542-57dup rs202002074
NM_003079.5(SMARCE1):c.545ATG[2] (p.Asp184del)
NM_003079.5(SMARCE1):c.587T>C (p.Phe196Ser) rs2143988498
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) rs797045990
NM_003079.5(SMARCE1):c.68C>G (p.Pro23Arg) rs2144009244
NM_003079.5(SMARCE1):c.7+3_7+6del rs2144015615
NM_003079.5(SMARCE1):c.715-1G>A rs2143987097
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.71G>T (p.Gly24Val)
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu) rs2037096994
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter) rs1057518166
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val) rs758923998
NM_003079.5(SMARCE1):c.887C>G (p.Ala296Gly) rs2037087035
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.905A>G (p.Glu302Gly)
NM_003079.5(SMARCE1):c.954C>G (p.Ile318Met) rs376628666

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