ClinVar Miner

List of variants reported as uncertain significance for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia by Invitae

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ClinVar version:
Total variants: 169
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HGVS dbSNP
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) rs782262202
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) rs781852373
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val) rs781840723
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser) rs375038091
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254
NM_001110556.2(FLNA):c.2281-3C>A rs1603361933
NM_001110556.2(FLNA):c.2281-6_2281-2dup
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His) rs371839875
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp) rs1557178269
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser) rs781846227
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr)
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
NM_001110556.2(FLNA):c.2566-6C>A
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val) rs1557178202
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn) rs782045915
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu)
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678
NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu)
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) rs782406278
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu)
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) rs1603360869
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys) rs192337215
NM_001110556.2(FLNA):c.4303+7_4303+9del
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser) rs782349011
NM_001110556.2(FLNA):c.4474+3G>A
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)
NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=)
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
NM_001110556.2(FLNA):c.5416+6T>G
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) rs781794030
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met) rs781946802
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) rs781956012
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn) rs371611462
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met)
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met) rs201396725
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) rs782477734
NM_001110556.2(FLNA):c.6502+8C>G rs1603359201
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr)
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766
NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys)
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys) rs1603358960
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=)
NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His) rs377274096
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu)
NM_001110556.2(FLNA):c.7023+7C>T
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys)
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu) rs782645927
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr) rs202152952
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser)
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile) rs782190081
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val) rs971390304
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) rs886038966
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly)
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740

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