ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
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.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.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
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.2817C>T (p.Phe939=) rs147791182 0.00047
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00047
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
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.3903C>T (p.Thr1301=) rs147314370 0.00029
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.2085C>T (p.Ser695=) rs149342641 0.00018
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.1557C>T (p.Asn519=) rs2288845 0.00011
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.4848G>A (p.Pro1616=) rs370590601 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.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.3918C>T (p.Ile1306=) rs773151387 0.00003
NM_003072.5(SMARCA4):c.801C>T (p.Gly267=) rs539124305 0.00003
NM_003072.5(SMARCA4):c.1338C>T (p.Ser446=) rs569040381 0.00002
NM_003072.5(SMARCA4):c.2526G>A (p.Arg842=) rs958322658 0.00002
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_003072.5(SMARCA4):c.626C>T (p.Pro209Leu) rs778071122 0.00002
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.1974A>G (p.Glu658=) rs1256168562 0.00001
NM_003072.5(SMARCA4):c.2244T>A (p.Leu748=) rs756276556 0.00001
NM_003072.5(SMARCA4):c.2427C>T (p.Ile809=) rs773895427 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.271A>C (p.Asn91His) rs755987663 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.4008C>G (p.Arg1336=) rs1467214059 0.00001
NM_003072.5(SMARCA4):c.4074C>T (p.Thr1358=) rs1269190894 0.00001
NM_003072.5(SMARCA4):c.4170+8C>G rs778760920 0.00001
NM_003072.5(SMARCA4):c.4176C>T (p.Ile1392=) rs767494921 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.54G>A (p.Pro18=) rs529632222 0.00001
NM_003072.5(SMARCA4):c.1182G>A (p.Gly394=) rs760199461
NM_003072.5(SMARCA4):c.1386C>T (p.Ile462=) rs1265247876
NM_003072.5(SMARCA4):c.1950A>G (p.Glu650=) rs1052555853
NM_003072.5(SMARCA4):c.2274+8del rs752010847
NM_003072.5(SMARCA4):c.2538C>T (p.Pro846=)
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.3006G>A (p.Ala1002=) rs1555779998
NM_003072.5(SMARCA4):c.3168+33C>T
NM_003072.5(SMARCA4):c.3993C>T (p.Pro1331=) rs747916992
NM_003072.5(SMARCA4):c.4259G>A (p.Gly1420Asp)
NM_003072.5(SMARCA4):c.4404C>T (p.Ala1468=) rs552535004
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.4657T>C (p.Leu1553=)
NM_003072.5(SMARCA4):c.4755C>T (p.Gly1585=)
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.4875C>A (p.Val1625=)
NM_003072.5(SMARCA4):c.807C>G (p.Pro269=) rs1404558986
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=) rs1599968129
NM_003072.5(SMARCA4):c.969G>C (p.Ser323=) rs770128715

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