ClinVar Miner

List of variants in gene SMARCA4 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
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.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.1419+4C>T rs370219784 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003072.5(SMARCA4):c.999C>T (p.Pro333=) rs538345417 0.00014
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=) rs140000691 0.00011
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.1119-6T>C rs368180712 0.00006
NM_003072.5(SMARCA4):c.888G>A (p.Thr296=) rs545237924 0.00006
NM_003072.5(SMARCA4):c.4491C>T (p.Tyr1497=) rs755142737 0.00004
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699 0.00003
NM_003072.5(SMARCA4):c.3429C>T (p.Asn1143=) rs768127028 0.00003
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.2418C>T (p.Phe806=) rs770432256 0.00001
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr) rs1344296942 0.00001
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760

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