ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic for embryonal neoplasm

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(?_11018947)_(11030903_?)del
NC_000019.10:g.(?_11018951)_(11030899_?)del
NC_000019.9:g.(?_11094822)_(11172498_?)del
NC_000019.9:g.(?_11094828)_(11114083_?)del
NC_000019.9:g.(?_11094828)_(11129709_?)del
NC_000019.9:g.(?_11094828)_(11152246_?)del
NC_000019.9:g.(?_11094828)_(11172492_?)del
NC_000019.9:g.(?_11098332)_(11105687_?)del
NC_000019.9:g.(?_11099983)_(11102009_?)del
NC_000019.9:g.(?_11101816)_(11152246_?)del
NC_000019.9:g.(?_11118568)_(11118709_?)del
NC_000019.9:g.(?_11118568)_(11172492_?)del
NC_000019.9:g.(?_11121047)_(11136194_?)del
NC_000019.9:g.(?_11138450)_(11141579_?)del
NM_001128849.1(SMARCA4):c.3874delG
NM_003072.5(SMARCA4):c.1020_1053dup (p.Ile352fs)
NM_003072.5(SMARCA4):c.1066C>T (p.Gln356Ter)
NM_003072.5(SMARCA4):c.1123C>T (p.Gln375Ter)
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.1155_1157del (p.Glu386del) rs1555756326
NM_003072.5(SMARCA4):c.1177del (p.Ala393fs) rs2145848353
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter) rs1295192121
NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter) rs2086356894
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1378C>T (p.Gln460Ter) rs1490850743
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1425C>A (p.Tyr475Ter)
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs) rs2145938835
NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter) rs2086887013
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter) rs2086888561
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys) rs2087030906
NM_003072.5(SMARCA4):c.1649del (p.Leu550fs)
NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter) rs375507937
NM_003072.5(SMARCA4):c.1681del (p.Val561fs) rs2087033635
NM_003072.5(SMARCA4):c.1754_1757del (p.Lys585fs) rs1555763780
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1831C>T (p.Gln611Ter) rs1568455217
NM_003072.5(SMARCA4):c.1958del (p.Pro653fs)
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_003072.5(SMARCA4):c.2111_2115del (p.Arg704fs) rs2146193795
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter) rs2146234214
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp) rs2088712889
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter) rs1555773269
NM_003072.5(SMARCA4):c.2266C>T (p.Gln756Ter)
NM_003072.5(SMARCA4):c.2291G>A (p.Trp764Ter)
NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter) rs2088999811
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.2329del (p.Leu777fs) rs1555774702
NM_003072.5(SMARCA4):c.2527del (p.Ala843fs) rs2146373508
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.2625del (p.Arg874_Trp875insTer)
NM_003072.5(SMARCA4):c.274del (p.Gln92fs)
NM_003072.5(SMARCA4):c.2766G>A (p.Trp922Ter)
NM_003072.5(SMARCA4):c.2780del (p.Phe927fs) rs2146421085
NM_003072.5(SMARCA4):c.2825G>A (p.Trp942Ter) rs2146422618
NM_003072.5(SMARCA4):c.2826G>A (p.Trp942Ter) rs2146422656
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs) rs2146423140
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs) rs797045980
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003072.5(SMARCA4):c.2959C>T (p.Gln987Ter)
NM_003072.5(SMARCA4):c.300_301del (p.Gly102fs) rs780424104
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter) rs2146473376
NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs) rs2090100956
NM_003072.5(SMARCA4):c.3129del (p.Lys1044fs) rs2146497558
NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter) rs1555781050
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs) rs2146516794
NM_003072.5(SMARCA4):c.3228C>G (p.Tyr1076Ter) rs2146541525
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3267del (p.Lys1091fs)
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.336dup (p.Met113fs) rs2145752321
NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)
NM_003072.5(SMARCA4):c.343C>T (p.Gln115Ter) rs2145752709
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3547-1G>A rs2146647668
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter) rs1600389034
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.3603dup (p.Leu1202fs)
NM_003072.5(SMARCA4):c.3607C>T (p.Arg1203Cys)
NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter) rs1555752859
NM_003072.5(SMARCA4):c.3725del (p.Glu1242fs)
NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs) rs2075088671
NM_003072.5(SMARCA4):c.3827del (p.Pro1276fs) rs2146666663
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter) rs2146678594
NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)
NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter) rs2146700981
NM_003072.5(SMARCA4):c.4145C>A (p.Ser1382Ter)
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter) rs878854224
NM_003072.5(SMARCA4):c.4345G>T (p.Glu1449Ter)
NM_003072.5(SMARCA4):c.4459C>T (p.Gln1487Ter)
NM_003072.5(SMARCA4):c.4465_4466insT (p.Pro1489fs)
NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter) rs2076695154
NM_003072.5(SMARCA4):c.4660C>T (p.Gln1554Ter) rs1555795884
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs) rs797045987
NM_003072.5(SMARCA4):c.4684C>T (p.Gln1562Ter)
NM_003072.5(SMARCA4):c.4738G>T (p.Glu1580Ter) rs1600644640
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter) rs2145775805
NM_003072.5(SMARCA4):c.493C>T (p.Gln165Ter) rs1568422286
NM_003072.5(SMARCA4):c.561C>G (p.Tyr187Ter) rs1305866080
NM_003072.5(SMARCA4):c.574del (p.Arg192fs) rs2145779070
NM_003072.5(SMARCA4):c.579del (p.Gln194fs)
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_003072.5(SMARCA4):c.657_661del (p.Leu220fs)
NM_003072.5(SMARCA4):c.662del (p.Pro221fs) rs1060502085
NM_003072.5(SMARCA4):c.671_696del (p.Ser224fs)
NM_003072.5(SMARCA4):c.810del (p.Met272fs)
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
NM_003072.5(SMARCA4):c.823C>T (p.Gln275Ter) rs1555754293
NM_003072.5(SMARCA4):c.868del (p.Ala290fs)
NM_003072.5(SMARCA4):c.870del (p.Asn291fs)
NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter) rs2086182638
NM_003072.5(SMARCA4):c.917_941del (p.Gln306fs) rs2145815261
NM_003072.5(SMARCA4):c.982_986del (p.Pro328fs) rs1555755067

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