ClinVar Miner

List of variants reported as uncertain significance for Singleton-Merten syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP
NC_000002.11:g.(?_163167345_163171408del
NC_000002.12:g.(?_162288115)_(162288375_?)del
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg)
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met)
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu)
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys) rs887114201
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter)
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter)
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys)
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg)
NM_022168.4(IFIH1):c.1134A>T (p.Gln378His)
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser) rs764148204
NM_022168.4(IFIH1):c.1152G>A (p.Trp384Ter)
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His)
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp)
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr)
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe)
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr)
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp)
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu)
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met)
NM_022168.4(IFIH1):c.1358T>G (p.Val453Gly)
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met)
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala)
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala)
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp) rs1474848285
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr)
NM_022168.4(IFIH1):c.1498G>A (p.Ala500Thr)
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys)
NM_022168.4(IFIH1):c.1524+2T>G rs865898522
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser)
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val)
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala) rs145641024
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)
NM_022168.4(IFIH1):c.1590C>G (p.Asn530Lys)
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr)
NM_022168.4(IFIH1):c.1609A>G (p.Lys537Glu)
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala)
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1641+2T>C
NM_022168.4(IFIH1):c.1642-1G>A
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys)
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro)
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1708A>G (p.Met570Val)
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val)
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)
NM_022168.4(IFIH1):c.1765+1del
NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr)
NM_022168.4(IFIH1):c.1766-3C>T
NM_022168.4(IFIH1):c.1784G>A (p.Arg595His)
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys)
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
NM_022168.4(IFIH1):c.1855A>G (p.Met619Val)
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met) rs752494417
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu)
NM_022168.4(IFIH1):c.1885T>G (p.Phe629Val)
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys)
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile)
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr)
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn) rs567418553
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp)
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn)
NM_022168.4(IFIH1):c.1996C>A (p.Pro666Thr)
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser) rs376074455
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn)
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs)
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr)
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr)
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2045-1G>A rs748813106
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer)
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
NM_022168.4(IFIH1):c.216C>A (p.His72Gln)
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser)
NM_022168.4(IFIH1):c.2198C>T (p.Ala733Val)
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg)
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp)
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln)
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn)
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
NM_022168.4(IFIH1):c.229C>A (p.Arg77=)
NM_022168.4(IFIH1):c.2305-2A>G
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.4(IFIH1):c.2316A>T (p.Lys772Asn)
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val)
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr)
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe)
NM_022168.4(IFIH1):c.2414T>G (p.Ile805Ser)
NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys)
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile)
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp) rs200810568
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)
NM_022168.4(IFIH1):c.2506A>G (p.Ser836Gly)
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter) rs750804689
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg)
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr)
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys)
NM_022168.4(IFIH1):c.2616+6G>A
NM_022168.4(IFIH1):c.2616+6G>T rs761784724
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr) rs748688202
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu)
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe)
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile)
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr)
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly)
NM_022168.4(IFIH1):c.277C>T (p.Arg93Cys)
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg) rs747311719
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile) rs1576220013
NM_022168.4(IFIH1):c.2808-3T>C
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile) rs1322389017
NM_022168.4(IFIH1):c.283A>G (p.Met95Val) rs777534095
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile)
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser) rs1466752669
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile) rs74162090
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu)
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His) rs1163178795
NM_022168.4(IFIH1):c.299C>G (p.Thr100Arg)
NM_022168.4(IFIH1):c.301G>C (p.Asp101His) rs1576243308
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu) rs764380346
NM_022168.4(IFIH1):c.346C>A (p.Gln116Lys)
NM_022168.4(IFIH1):c.36C>G (p.Arg12=)
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn)
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met)
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro) rs1231638178
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.454-1G>T rs148590996
NM_022168.4(IFIH1):c.454-4A>G
NM_022168.4(IFIH1):c.456del (p.Ile152fs)
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala)
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp)
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys)
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser)
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro)
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser)
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile)
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala)
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter) rs771251917
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.769+3A>G
NM_022168.4(IFIH1):c.770-10T>C
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr)
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn)
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile)
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly)
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu)
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter)
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter) rs1057520076
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser)
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter) rs74162079
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly)
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=) rs1576229569

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