ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic

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Total variants: 51
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HGVS dbSNP
NC_000019.9:g.(?_11094797)_(11172958_?)del
NC_000019.9:g.(?_11129623)_(11141579_?)del
NC_000019.9:g.(?_11129627)_(11141575_?)del
NM_001128849.2(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_001128849.2(SMARCA4):c.1155_1157del (p.Glu386del) rs1555756326
NM_001128849.2(SMARCA4):c.1189C>T (p.Arg397Ter)
NM_001128849.2(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_001128849.2(SMARCA4):c.1633_1635AAG[1] (p.Lys546del) rs876657378
NM_001128849.2(SMARCA4):c.1666C>T (p.Gln556Ter) rs1555763642
NM_001128849.2(SMARCA4):c.1754_1757del (p.Lys585fs)
NM_001128849.2(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_001128849.2(SMARCA4):c.1831C>T (p.Gln611Ter) rs1568455217
NM_001128849.2(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_001128849.2(SMARCA4):c.2164C>T (p.Gln722Ter) rs1555773269
NM_001128849.2(SMARCA4):c.2287G>T (p.Glu763Ter) rs1555774631
NM_001128849.2(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_001128849.2(SMARCA4):c.2329del (p.Leu777fs) rs1555774702
NM_001128849.2(SMARCA4):c.2348T>C (p.Leu783Pro) rs869312964
NM_001128849.2(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_001128849.2(SMARCA4):c.2617-3C>G rs587777463
NM_001128849.2(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_001128849.2(SMARCA4):c.2654G>A (p.Arg885His) rs1064794284
NM_001128849.2(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_001128849.2(SMARCA4):c.2828T>G (p.Phe943Cys) rs1555778828
NM_001128849.2(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_001128849.2(SMARCA4):c.2922del (p.Phe975fs) rs797045980
NM_001128849.2(SMARCA4):c.2932C>T (p.Arg978Ter)
NM_001128849.2(SMARCA4):c.300_301del (p.Gly102fs) rs780424104
NM_001128849.2(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_001128849.2(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_001128849.2(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_001128849.2(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_001128849.2(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_001128849.2(SMARCA4):c.3556G>A (p.Ala1186Thr) rs1085307556
NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_001128849.2(SMARCA4):c.4170+1G>A rs587777461
NM_001128849.2(SMARCA4):c.4180_4181delinsC (p.Gly1394fs) rs1555787120
NM_001128849.2(SMARCA4):c.4208del (p.Ser1403fs) rs1060502088
NM_001128849.2(SMARCA4):c.4339C>T (p.Arg1447Ter) rs878854224
NM_001128849.2(SMARCA4):c.4567C>T (p.Arg1523Ter)
NM_001128849.2(SMARCA4):c.4622del (p.Lys1541fs) rs1555795091
NM_001128849.2(SMARCA4):c.4756C>T (p.Gln1586Ter) rs1555795884
NM_001128849.2(SMARCA4):c.4763del (p.Val1588fs) rs797045987
NM_001128849.2(SMARCA4):c.4834G>T (p.Glu1612Ter)
NM_001128849.2(SMARCA4):c.4930G>A (p.Gly1644Ser) rs372319442
NM_001128849.2(SMARCA4):c.493C>T (p.Gln165Ter) rs1568422286
NM_001128849.2(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_001128849.2(SMARCA4):c.662del (p.Pro221fs) rs1060502085
NM_001128849.2(SMARCA4):c.788dup (p.Gly264fs) rs1555754177
NM_001128849.2(SMARCA4):c.823C>T (p.Gln275Ter) rs1555754293
NM_001128849.2(SMARCA4):c.982_986del (p.Pro328fs) rs1555755067

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