ClinVar Miner

List of variants in gene SMARCA2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003070.5(SMARCA2):c.3126-17C>T rs200229990 0.00029
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.2348+8A>C rs771019219 0.00020
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=) rs148467601 0.00019
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003070.5(SMARCA2):c.674A>C (p.Gln225Pro) rs145170448 0.00014
NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=) rs140551438 0.00011
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) rs981565985 0.00008
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) rs371544356 0.00007
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.3963G>A (p.Thr1321=) rs772015906 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.4509G>A (p.Arg1503=) rs751453496 0.00005
NM_003070.5(SMARCA2):c.2211C>T (p.Ser737=) rs753721769 0.00004
NM_003070.5(SMARCA2):c.2673C>T (p.Leu891=) rs201306504 0.00004
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=) rs61761955 0.00004
NM_003070.5(SMARCA2):c.4737+12C>T rs769322005 0.00004
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) rs150630640 0.00003
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) rs3793510 0.00003
NM_003070.5(SMARCA2):c.2349-15T>A rs777370075 0.00002
NM_003070.5(SMARCA2):c.3702G>A (p.Pro1234=) rs140458185 0.00002
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) rs745662991 0.00002
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=) rs373924332 0.00002
NM_003070.5(SMARCA2):c.4716C>T (p.Ser1572=) rs1395708134 0.00002
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) rs1245060732 0.00001
NM_003070.5(SMARCA2):c.2154C>G (p.Leu718=) rs565609955 0.00001
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) rs886063776 0.00001
NM_003070.5(SMARCA2):c.3882C>G (p.Leu1294=) rs751409386 0.00001
NM_003070.5(SMARCA2):c.3982-11C>A rs780683031 0.00001
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) rs751758557 0.00001
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) rs759832527 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003070.5(SMARCA2):c.873C>T (p.Pro291=) rs1339118310 0.00001
NM_003070.5(SMARCA2):c.1046+7C>T
NM_003070.5(SMARCA2):c.1047-13T>C
NM_003070.5(SMARCA2):c.1047-17T>C
NM_003070.5(SMARCA2):c.104C>T (p.Pro35Leu)
NM_003070.5(SMARCA2):c.1131C>T (p.Thr377=)
NM_003070.5(SMARCA2):c.1173+10T>A
NM_003070.5(SMARCA2):c.1173+13C>A
NM_003070.5(SMARCA2):c.1173+15C>T
NM_003070.5(SMARCA2):c.1173+8A>G
NM_003070.5(SMARCA2):c.1174-7T>C
NM_003070.5(SMARCA2):c.1174-8C>T
NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile)
NM_003070.5(SMARCA2):c.1194C>T (p.Ala398=)
NM_003070.5(SMARCA2):c.1212G>A (p.Thr404=)
NM_003070.5(SMARCA2):c.1347+20T>C
NM_003070.5(SMARCA2):c.1347+9A>C rs2130344799
NM_003070.5(SMARCA2):c.134G>C (p.Gly45Ala)
NM_003070.5(SMARCA2):c.1353C>T (p.Tyr451=)
NM_003070.5(SMARCA2):c.1356G>C (p.Leu452=)
NM_003070.5(SMARCA2):c.1359C>T (p.Asn453=)
NM_003070.5(SMARCA2):c.1374T>C (p.His458=)
NM_003070.5(SMARCA2):c.1426C>G (p.Leu476Val)
NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=)
NM_003070.5(SMARCA2):c.1521+15G>T
NM_003070.5(SMARCA2):c.1521+16C>T
NM_003070.5(SMARCA2):c.1521+8del
NM_003070.5(SMARCA2):c.1521+9C>G
NM_003070.5(SMARCA2):c.1522-17T>C
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=)
NM_003070.5(SMARCA2):c.1692+10C>G
NM_003070.5(SMARCA2):c.1692+20T>C
NM_003070.5(SMARCA2):c.1692+8T>C
NM_003070.5(SMARCA2):c.1693-15A>G
NM_003070.5(SMARCA2):c.1693-18G>A
NM_003070.5(SMARCA2):c.1728C>T (p.Ala576=)
NM_003070.5(SMARCA2):c.1736C>T (p.Pro579Leu)
NM_003070.5(SMARCA2):c.173C>T (p.Pro58Leu) rs764338204
NM_003070.5(SMARCA2):c.1746+11G>A
NM_003070.5(SMARCA2):c.1746+20T>G
NM_003070.5(SMARCA2):c.1747-11C>A rs960524428
NM_003070.5(SMARCA2):c.1747-9C>T
NM_003070.5(SMARCA2):c.1818G>T (p.Leu606=)
NM_003070.5(SMARCA2):c.1821C>T (p.Phe607=)
NM_003070.5(SMARCA2):c.1830A>G (p.Glu610=)
NM_003070.5(SMARCA2):c.183G>T (p.Gly61=)
NM_003070.5(SMARCA2):c.1849C>T (p.Leu617=)
NM_003070.5(SMARCA2):c.1878-16C>T
NM_003070.5(SMARCA2):c.1878-17T>C
NM_003070.5(SMARCA2):c.1878-17dup
NM_003070.5(SMARCA2):c.1878-19C>T
NM_003070.5(SMARCA2):c.1878-4T>A
NM_003070.5(SMARCA2):c.1878-7T>G
NM_003070.5(SMARCA2):c.1878-8T>C
NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)
NM_003070.5(SMARCA2):c.1890C>A (p.Ala630=)
NM_003070.5(SMARCA2):c.189A>C (p.Thr63=)
NM_003070.5(SMARCA2):c.1917T>C (p.Asp639=)
NM_003070.5(SMARCA2):c.1935+10T>C
NM_003070.5(SMARCA2):c.1935+11A>G
NM_003070.5(SMARCA2):c.1935+13C>T
NM_003070.5(SMARCA2):c.1936-10C>T
NM_003070.5(SMARCA2):c.1936-13G>T
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)
NM_003070.5(SMARCA2):c.2004A>G (p.Glu668=)
NM_003070.5(SMARCA2):c.2010T>C (p.Ser670=)
NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=)
NM_003070.5(SMARCA2):c.2037-9C>T
NM_003070.5(SMARCA2):c.2052C>T (p.Asp684=)
NM_003070.5(SMARCA2):c.2055G>T (p.Val685=)
NM_003070.5(SMARCA2):c.208A>T (p.Met70Leu)
NM_003070.5(SMARCA2):c.2100C>G (p.Ser700=)
NM_003070.5(SMARCA2):c.2109C>G (p.Thr703=)
NM_003070.5(SMARCA2):c.2109C>T (p.Thr703=)
NM_003070.5(SMARCA2):c.2151C>T (p.Ala717=)
NM_003070.5(SMARCA2):c.2185-8C>T
NM_003070.5(SMARCA2):c.2212C>T (p.Leu738=)
NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=)
NM_003070.5(SMARCA2):c.225+12T>C
NM_003070.5(SMARCA2):c.225+7G>A
NM_003070.5(SMARCA2):c.2280T>C (p.Ile760=)
NM_003070.5(SMARCA2):c.2286C>T (p.Leu762=)
NM_003070.5(SMARCA2):c.228C>T (p.Pro76=)
NM_003070.5(SMARCA2):c.2295T>C (p.Tyr765=)
NM_003070.5(SMARCA2):c.2343C>T (p.Pro781=)
NM_003070.5(SMARCA2):c.2348+12C>T
NM_003070.5(SMARCA2):c.2348+9A>C rs2130464724
NM_003070.5(SMARCA2):c.2349-19T>G
NM_003070.5(SMARCA2):c.2355A>G (p.Leu785=)
NM_003070.5(SMARCA2):c.2415+18T>G
NM_003070.5(SMARCA2):c.2457G>A (p.Arg819=)
NM_003070.5(SMARCA2):c.2471A>G (p.Asn824Ser)
NM_003070.5(SMARCA2):c.2475C>A (p.Val825=)
NM_003070.5(SMARCA2):c.2478C>T (p.Leu826=)
NM_003070.5(SMARCA2):c.2526+11A>G
NM_003070.5(SMARCA2):c.2526+17T>A
NM_003070.5(SMARCA2):c.2526+19A>G
NM_003070.5(SMARCA2):c.2527-12C>T
NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)
NM_003070.5(SMARCA2):c.2598C>T (p.Val866=)
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.2770-13G>A
NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)
NM_003070.5(SMARCA2):c.2814A>G (p.Leu938=)
NM_003070.5(SMARCA2):c.2859A>G (p.Glu953=)
NM_003070.5(SMARCA2):c.2877C>T (p.Pro959=)
NM_003070.5(SMARCA2):c.2884-4G>A
NM_003070.5(SMARCA2):c.2889A>G (p.Glu963=)
NM_003070.5(SMARCA2):c.289A>G (p.Thr97Ala)
NM_003070.5(SMARCA2):c.2955G>C (p.Gly985=)
NM_003070.5(SMARCA2):c.2991+19T>C
NM_003070.5(SMARCA2):c.2991+9C>G
NM_003070.5(SMARCA2):c.2991+9C>T
NM_003070.5(SMARCA2):c.2992-13C>T
NM_003070.5(SMARCA2):c.2992-18C>G
NM_003070.5(SMARCA2):c.2992-19C>A
NM_003070.5(SMARCA2):c.2992-20C>T
NM_003070.5(SMARCA2):c.3034T>C (p.Leu1012=)
NM_003070.5(SMARCA2):c.304C>A (p.Pro102Thr)
NM_003070.5(SMARCA2):c.305C>A (p.Pro102His)
NM_003070.5(SMARCA2):c.3078+9G>A
NM_003070.5(SMARCA2):c.3125+13T>C
NM_003070.5(SMARCA2):c.3125+16T>A
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
NM_003070.5(SMARCA2):c.3192G>T (p.Ala1064=)
NM_003070.5(SMARCA2):c.3201C>T (p.His1067=)
NM_003070.5(SMARCA2):c.3207G>A (p.Val1069=)
NM_003070.5(SMARCA2):c.3213T>C (p.Leu1071=)
NM_003070.5(SMARCA2):c.3228A>G (p.Thr1076=)
NM_003070.5(SMARCA2):c.3293-11G>C
NM_003070.5(SMARCA2):c.3293-13del
NM_003070.5(SMARCA2):c.3294C>T (p.Gly1098=)
NM_003070.5(SMARCA2):c.3300C>T (p.Thr1100=)
NM_003070.5(SMARCA2):c.3420A>T (p.Thr1140=)
NM_003070.5(SMARCA2):c.3456+11C>G
NM_003070.5(SMARCA2):c.3457-12C>T
NM_003070.5(SMARCA2):c.3457-16T>C
NM_003070.5(SMARCA2):c.3457-19A>T
NM_003070.5(SMARCA2):c.3457-6A>G
NM_003070.5(SMARCA2):c.3528C>G (p.Thr1176=)
NM_003070.5(SMARCA2):c.3528C>T (p.Thr1176=)
NM_003070.5(SMARCA2):c.355+10C>T
NM_003070.5(SMARCA2):c.355+18A>G rs1262234607
NM_003070.5(SMARCA2):c.3579C>T (p.Asn1193=)
NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=)
NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=)
NM_003070.5(SMARCA2):c.3684+10A>T
NM_003070.5(SMARCA2):c.3685-9T>C
NM_003070.5(SMARCA2):c.3705C>T (p.Asp1235=)
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=) rs777556670
NM_003070.5(SMARCA2):c.3807A>G (p.Lys1269=)
NM_003070.5(SMARCA2):c.3837G>A (p.Glu1279=)
NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=)
NM_003070.5(SMARCA2):c.3894A>G (p.Glu1298=)
NM_003070.5(SMARCA2):c.3918G>A (p.Arg1306=)
NM_003070.5(SMARCA2):c.3957C>T (p.Ala1319=)
NM_003070.5(SMARCA2):c.3982-6G>A
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4059T>C (p.Asp1353=)
NM_003070.5(SMARCA2):c.4081G>A (p.Val1361Met)
NM_003070.5(SMARCA2):c.4116C>T (p.Pro1372=)
NM_003070.5(SMARCA2):c.4149G>A (p.Leu1383=)
NM_003070.5(SMARCA2):c.4173C>T (p.Ile1391=)
NM_003070.5(SMARCA2):c.4200-5C>T
NM_003070.5(SMARCA2):c.4205A>T (p.Asn1402Ile)
NM_003070.5(SMARCA2):c.4223G>A (p.Ser1408Asn)
NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=)
NM_003070.5(SMARCA2):c.4253+12T>C
NM_003070.5(SMARCA2):c.4253+16G>A
NM_003070.5(SMARCA2):c.4253+18A>G
NM_003070.5(SMARCA2):c.4253+9C>T rs757009984
NM_003070.5(SMARCA2):c.4254-15T>G
NM_003070.5(SMARCA2):c.4254-20T>C
NM_003070.5(SMARCA2):c.4254-4A>G
NM_003070.5(SMARCA2):c.4296A>G (p.Ser1432=)
NM_003070.5(SMARCA2):c.4347C>T (p.Phe1449=)
NM_003070.5(SMARCA2):c.4360-16C>T rs142175015
NM_003070.5(SMARCA2):c.4360-9T>A
NM_003070.5(SMARCA2):c.4395C>G (p.Gly1465=)
NM_003070.5(SMARCA2):c.4431C>T (p.Asn1477=)
NM_003070.5(SMARCA2):c.4458C>G (p.Ser1486=)
NM_003070.5(SMARCA2):c.4461+10_4461+11del rs1261682948
NM_003070.5(SMARCA2):c.4461+13_4461+17del
NM_003070.5(SMARCA2):c.4461+17del rs777462019
NM_003070.5(SMARCA2):c.4500G>C (p.Lys1500Asn)
NM_003070.5(SMARCA2):c.4548C>T (p.Ser1516=)
NM_003070.5(SMARCA2):c.4594+17G>A
NM_003070.5(SMARCA2):c.4595-1G>C
NM_003070.5(SMARCA2):c.4635T>C (p.Asp1545=)
NM_003070.5(SMARCA2):c.4644C>T (p.Gly1548=)
NM_003070.5(SMARCA2):c.4734A>T (p.Glu1578Asp)
NM_003070.5(SMARCA2):c.4737+11C>G
NM_003070.5(SMARCA2):c.4737+17G>C
NM_003070.5(SMARCA2):c.4737+20A>G
NM_003070.5(SMARCA2):c.4738-12T>C
NM_003070.5(SMARCA2):c.4738-14_4738-11dup
NM_003070.5(SMARCA2):c.4738-15T>C
NM_003070.5(SMARCA2):c.4738-17_4738-15del
NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His)
NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=)
NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met)
NM_003070.5(SMARCA2):c.51G>A (p.Pro17=)
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.791-19dup
NM_003070.5(SMARCA2):c.807G>C (p.Leu269=)
NM_003070.5(SMARCA2):c.810C>T (p.Ser270=)
NM_003070.5(SMARCA2):c.849C>A (p.Pro283=)
NM_003070.5(SMARCA2):c.876C>G (p.Pro292=)
NM_003070.5(SMARCA2):c.891G>T (p.Pro297=)
NM_003070.5(SMARCA2):c.897G>T (p.Ala299=)
NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)

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