ClinVar Miner

List of variants in gene SMARCA2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=) rs147739329 0.00159
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=) rs140384223 0.00053
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003070.5(SMARCA2):c.3685-6C>A rs201731141 0.00021
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003070.5(SMARCA2):c.4200-4G>A rs190182277 0.00016
NM_003070.5(SMARCA2):c.681G>A (p.Gln227=) rs142219087 0.00010
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) rs149394378 0.00005
NM_003070.5(SMARCA2):c.2348+3A>G rs368599978 0.00002
NM_003070.5(SMARCA2):c.1408G>T (p.Ala470Ser) rs1420651559 0.00001
NM_003070.5(SMARCA2):c.816G>A (p.Pro272=) rs1272928913 0.00001
NM_003070.5(SMARCA2):c.1035G>A (p.Glu345=) rs2130293873
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)
NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=)
NM_003070.5(SMARCA2):c.2604C>T (p.Asn868=)
NM_003070.5(SMARCA2):c.2643G>C (p.Gly881=)
NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=)
NM_003070.5(SMARCA2):c.2827A>C (p.Arg943=)
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
NM_003070.5(SMARCA2):c.3192G>A (p.Ala1064=) rs770885495
NM_003070.5(SMARCA2):c.3457-7C>G
NM_003070.5(SMARCA2):c.3661T>C (p.Leu1221=)
NM_003070.5(SMARCA2):c.3729T>A (p.Ile1243=) rs532483020
NM_003070.5(SMARCA2):c.3982-1108A>G
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) rs62639302
NM_003070.5(SMARCA2):c.761C>T (p.Pro254Leu)
NM_003070.5(SMARCA2):c.846G>T (p.Ala282=)
NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)
NM_003070.5(SMARCA2):c.993C>T (p.Ile331=) rs1819914294

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