ClinVar Miner

List of variants in gene SMARCA2 reported as uncertain significance for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.2348+8A>C rs771019219 0.00020
NM_003070.5(SMARCA2):c.*230T>C rs966867044 0.00014
NM_003070.5(SMARCA2):c.*307C>T rs868705647 0.00012
NM_003070.5(SMARCA2):c.*765T>G rs901166717 0.00011
NM_003070.5(SMARCA2):c.*587T>C rs918541411 0.00007
NM_003070.5(SMARCA2):c.*80T>C rs370531788 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.3981+11C>G rs1231425120 0.00004
NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr) rs759970929 0.00004
NM_003070.5(SMARCA2):c.4737+12C>T rs769322005 0.00004
NM_003070.5(SMARCA2):c.*537T>C rs759183108 0.00003
NM_003070.5(SMARCA2):c.2037-4C>A rs772646899 0.00003
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) rs150630640 0.00003
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr) rs1007969036 0.00003
NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=) rs369919125 0.00002
NM_003070.5(SMARCA2):c.*782G>A rs1056878965 0.00001
NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=) rs1400253844 0.00001
NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg) rs1298685112 0.00001
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu) rs199989401 0.00001
NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val) rs771591197 0.00001
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) rs886063776 0.00001
NM_003070.5(SMARCA2):c.2527-3T>C rs781267277 0.00001
NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile) rs370403102 0.00001
NM_003070.5(SMARCA2):c.399C>T (p.His133=) rs907788066 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.4765G>C (p.Asp1589His) rs1380500654 0.00001
NM_003070.5(SMARCA2):c.699G>A (p.Gln233=) rs1563724939 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
NM_003070.5(SMARCA2):c.990C>T (p.Pro330=) rs1440645966 0.00001
NM_003070.5(SMARCA2):c.*101A>C rs749591740
NM_003070.5(SMARCA2):c.*16T>C rs768982865
NM_003070.5(SMARCA2):c.*192G>C rs768360622
NM_003070.5(SMARCA2):c.*197A>G rs886063798
NM_003070.5(SMARCA2):c.*204G>A rs1295221964
NM_003070.5(SMARCA2):c.*489A>G rs1828016602
NM_003070.5(SMARCA2):c.*5T>C rs886063797
NM_003070.5(SMARCA2):c.*670A>G rs1828028962
NM_003070.5(SMARCA2):c.*694T>G rs886063800
NM_003070.5(SMARCA2):c.*876G>C rs553367571
NM_003070.5(SMARCA2):c.-37+1G>T
NM_003070.5(SMARCA2):c.105A>G (p.Pro35=) rs1039400951
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003070.5(SMARCA2):c.1333C>T (p.Arg445Cys) rs1383968848
NM_003070.5(SMARCA2):c.1347+16dup
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn) rs1057518990
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys) rs1586657809
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) rs754525705
NM_003070.5(SMARCA2):c.2032A>G (p.Ile678Val) rs1043816045
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala)
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.2431C>T (p.Arg811Cys)
NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu) rs2130475008
NM_003070.5(SMARCA2):c.2566A>G (p.Met856Val)
NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg) rs1316406047
NM_003070.5(SMARCA2):c.2795T>C (p.Ile932Thr) rs1586692509
NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg) rs1821908356
NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro) rs2130525728
NM_003070.5(SMARCA2):c.2933A>T (p.Tyr978Phe) rs78915420
NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr)
NM_003070.5(SMARCA2):c.3040A>G (p.Lys1014Glu) rs1586701712
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr) rs145516397
NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=) rs770440833
NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu) rs1822650605
NM_003070.5(SMARCA2):c.3389G>A (p.Gly1130Asp) rs1563774743
NM_003070.5(SMARCA2):c.3448C>G (p.Pro1150Ala) rs1822944896
NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe) rs2130599641
NM_003070.5(SMARCA2):c.3633C>T (p.His1211=) rs1353802111
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs) rs1823357335
NM_003070.5(SMARCA2):c.3763-1230G>C rs1453505894
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)
NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln) rs1827027348
NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr)
NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu) rs752298477
NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg) rs778494811
NM_003070.5(SMARCA2):c.4696G>A (p.Val1566Ile) rs1827870545
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=) rs886063795
NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) rs1373182486
NM_003070.5(SMARCA2):c.693G>A (p.Gln231=) rs149130789
NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg)
NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549
NM_003070.5(SMARCA2):c.919G>A (p.Val307Met) rs1819907795
NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln) rs1330852847
NM_003070.5(SMARCA2):c.961C>T (p.Leu321=) rs770243967

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