ClinVar Miner

List of variants reported as uncertain significance for central nervous system neoplasm by Baylor Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631 0.00016
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu) rs371045201 0.00007
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His) rs201577008 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val) rs756474511 0.00006
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184 0.00006
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln) rs375672575 0.00005
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp) rs773859296 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_003000.3(SDHB):c.695C>T (p.Ala232Val) rs746224555 0.00004
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr) rs371214327 0.00004
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val) rs767638396 0.00004
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser) rs766474711 0.00004
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val) rs777647740 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp) rs766797299 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser) rs745448272 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val) rs111402137 0.00004
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) rs535627239 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr) rs776672640 0.00003
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) rs143950084 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr) rs374722116 0.00003
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu) rs1368858108 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg) rs771925230 0.00002
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val) rs878854196 0.00002
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn) rs772752194 0.00002
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met) rs766237791 0.00002
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met) rs372893370 0.00002
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val) rs148115492 0.00002
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu) rs778071122 0.00002
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met) rs768522438 0.00002
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg) rs775843321 0.00002
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys) rs925142025 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389 0.00002
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364 0.00002
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys) rs1026724985 0.00001
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504 0.00001
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886 0.00001
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His) rs1018881303 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln) rs1060502059 0.00001
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg) rs1291938544 0.00001
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg) rs140176945 0.00001
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg) rs1288014090 0.00001
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val) rs1221798183 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys) rs587778681 0.00001
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His) rs377573682 0.00001
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His) rs1389184364 0.00001
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp) rs1303089960 0.00001
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met) rs1568565611 0.00001
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln) rs1484835507 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu) rs756255060 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.4911+5G>A rs534705500 0.00001
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys) rs776222414 0.00001
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln) rs769756381 0.00001
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg) rs769414440 0.00001
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser) rs767947665 0.00001
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val) rs763054014 0.00001
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser) rs1304026031 0.00001
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu) rs910095001 0.00001
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met) rs1361910224 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) rs766200637 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 0.00001
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu) rs376181802 0.00001
NM_003079.5(SMARCE1):c.238-15T>A rs766494520 0.00001
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val) rs765003978 0.00001
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) rs768536854 0.00001
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser) rs1176390337 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 0.00001
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys) rs778449586 0.00001
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200 0.00001
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys) rs367574730 0.00001
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly) rs1056273933 0.00001
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser) rs952830677 0.00001
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu) rs766974263
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1575-24T>A
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.447+166T>G
NM_000268.4(NF2):c.463C>G (p.Pro155Ala) rs2066246942
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp) rs1325902176
NM_000268.4(NF2):c.593G>A (p.Arg198Gln) rs2146973900
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.675+172G>T
NM_000268.4(NF2):c.675+182A>G
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly) rs200131173
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro) rs1599929325
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly) rs1555750818
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val) rs1060502081
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu) rs375812959
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr) rs2086530559
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met) rs1265247876
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr) rs1369374541
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del) rs1429065030
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del) rs1484395538
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val) rs1600132436
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) rs1555768365
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp) rs772356536
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys) rs779627018
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile) rs1568493644
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg) rs1060502074
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val) rs773526113
NM_003072.5(SMARCA4):c.3216-346C>T
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln) rs1568498301
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr) rs1175163671
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu) rs1555752859
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His) rs1060502060
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His) rs2075174391
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys) rs199962502
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys) rs864622722
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr) rs1377505488
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) rs1555795063
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His) rs1600635111
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu) rs374983142
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val) rs2145775018
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro) rs1555796035
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln) rs878854233
NM_003072.5(SMARCA4):c.4910_4911+1del rs745740277
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val) rs1599951271
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro) rs1057422480
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10]) rs372601826
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del) rs1555754225
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser) rs199573401
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu) rs1026742588
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile) rs748459210
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu) rs762139955
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=) rs371214843
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile) rs1568426962
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr) rs1597741198
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu) rs201577008
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu) rs371977724
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly) rs1862011610
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val) rs781702725
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
NM_017841.4(SDHAF2):c.371-4G>C
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528

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