ClinVar Miner

List of variants in gene SMARCA4 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1593+343G>A rs117788028 0.00724
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_003072.5(SMARCA4):c.-32+29C>T rs542032487 0.00171
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003072.5(SMARCA4):c.*299C>T rs772399601 0.00056
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00028
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_003072.5(SMARCA4):c.2049C>T (p.Pro683=) rs138878490 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.417G>A (p.Pro139=) rs142092395 0.00019
NM_003072.5(SMARCA4):c.4932C>T (p.Ser1644=) rs139335250 0.00019
NM_003072.5(SMARCA4):c.2064G>A (p.Lys688=) rs368941893 0.00017
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=) rs538345417 0.00014
NM_003072.5(SMARCA4):c.690C>T (p.Pro230=) rs372941839 0.00013
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu) rs138097741 0.00012
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_001387283.1(SMARCA4):c.4211T>G (p.Val1404Gly) rs200469979 0.00010
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.951C>T (p.Ala317=) rs377511733 0.00010
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_003072.5(SMARCA4):c.4329C>T (p.Arg1443=) rs373999751 0.00008
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=) rs146747026 0.00006
NM_003072.5(SMARCA4):c.591C>T (p.Pro197=) rs572753619 0.00006
NM_003072.5(SMARCA4):c.4884C>T (p.Asp1628=) rs778856307 0.00005
NM_003072.5(SMARCA4):c.726C>T (p.Pro242=) rs578260605 0.00005
NM_003072.5(SMARCA4):c.3897C>T (p.Asp1299=) rs768987283 0.00004
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val) rs569715577 0.00003
NM_003072.5(SMARCA4):c.1908C>T (p.Ala636=) rs548456029 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.2574G>A (p.Thr858=) rs760653330 0.00003
NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=) rs143160246 0.00003
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=) rs768127028 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_003072.5(SMARCA4):c.2617-5C>T rs377743250 0.00002
NM_003072.5(SMARCA4):c.4605C>T (p.Asn1535=) rs746699196 0.00002
NM_003072.5(SMARCA4):c.4833C>T (p.Gly1611=) rs558890921 0.00002
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His) rs779801126 0.00001
NM_003072.5(SMARCA4):c.1059C>A (p.Thr353=) rs1060504448 0.00001
NM_003072.5(SMARCA4):c.1680C>T (p.Tyr560=) rs375507937 0.00001
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met) rs779952581 0.00001
NM_003072.5(SMARCA4):c.1974A>G (p.Glu658=) rs1256168562 0.00001
NM_003072.5(SMARCA4):c.2610C>T (p.Leu870=) rs1339020579 0.00001
NM_003072.5(SMARCA4):c.2697G>A (p.Thr899=) rs373267815 0.00001
NM_003072.5(SMARCA4):c.3165C>T (p.Ile1055=) rs774483875 0.00001
NM_003072.5(SMARCA4):c.3180C>T (p.Ser1060=) rs765269922 0.00001
NM_003072.5(SMARCA4):c.4338G>A (p.Pro1446=) rs768651929 0.00001
NM_003072.5(SMARCA4):c.4677C>T (p.Ser1559=) rs143683859 0.00001
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val) rs780497718 0.00001
NM_001387283.1(SMARCA4):c.4187A>G (p.Asp1396Gly) rs186823009
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.1182G>A (p.Gly394=) rs760199461
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1386C>T (p.Ile462=) rs1265247876
NM_003072.5(SMARCA4):c.1762-2A>G rs2087063244
NM_003072.5(SMARCA4):c.1950A>G (p.Glu650=) rs1052555853
NM_003072.5(SMARCA4):c.2274+8del rs752010847
NM_003072.5(SMARCA4):c.2340G>C (p.Glu780Asp) rs2146278687
NM_003072.5(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_003072.5(SMARCA4):c.2538C>T (p.Pro846=)
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.3034C>T (p.Gln1012Ter)
NM_003072.5(SMARCA4):c.3140A>T (p.Asn1047Ile) rs2146497942
NM_003072.5(SMARCA4):c.3168+33C>T
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln) rs1555783190
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3626G>A (p.Ser1209Asn) rs145476154
NM_003072.5(SMARCA4):c.3668A>G (p.Asn1223Ser) rs2146652117
NM_003072.5(SMARCA4):c.3826C>G (p.Pro1276Ala) rs1600393785
NM_003072.5(SMARCA4):c.3990C>G (p.Asn1330Lys) rs2146697311
NM_003072.5(SMARCA4):c.3993C>T (p.Pro1331=) rs747916992
NM_003072.5(SMARCA4):c.4259G>A (p.Gly1420Asp)
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.462G>A (p.Leu154=)
NM_003072.5(SMARCA4):c.4647C>T (p.Asp1549=)
NM_003072.5(SMARCA4):c.4704_4713del (p.Asp1568fs) rs1600644179
NM_003072.5(SMARCA4):c.4755C>T (p.Gly1585=)
NM_003072.5(SMARCA4):c.610G>T (p.Val204Leu)
NM_003072.5(SMARCA4):c.696T>C (p.Pro232=) rs573767517
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10]) rs568390760
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=) rs1599968129
NM_003072.5(SMARCA4):c.969G>C (p.Ser323=) rs770128715

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