ClinVar Miner

List of variants in gene SMARCC2 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001330288.2(SMARCC2):c.708+46A>C rs773644 0.93552
NM_001330288.2(SMARCC2):c.2716-3del rs778570250 0.00004
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr) rs772189962 0.00002
NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala) rs776717020 0.00002
NM_001330288.2(SMARCC2):c.1744-2A>G rs1025329696 0.00001
NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg) rs1328302930 0.00001
NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe) rs1203017760 0.00001
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp) rs776778840 0.00001
NC_000012.12:g.(56167013_56168930)del
NM_001330288.2(SMARCC2):c.1091del (p.Lys364fs)
NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)
NM_001330288.2(SMARCC2):c.1142-1G>C rs1875550324
NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)
NM_001330288.2(SMARCC2):c.1181A>T (p.Asp394Val)
NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)
NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)
NM_001330288.2(SMARCC2):c.1310+1G>T rs1875450525
NM_001330288.2(SMARCC2):c.1311-3C>G rs1206884190
NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser) rs1877438087
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)
NM_001330288.2(SMARCC2):c.1496+1G>T
NM_001330288.2(SMARCC2):c.1496+2T>G
NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)
NM_001330288.2(SMARCC2):c.1497-2A>G
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala) rs1877434002
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) rs1877432240
NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)
NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)
NM_001330288.2(SMARCC2):c.1919T>C (p.Leu640Pro) rs2135687866
NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro) rs1565903367
NM_001330288.2(SMARCC2):c.1926+1G>A rs1555221275
NM_001330288.2(SMARCC2):c.1926+1G>T rs1555221275
NM_001330288.2(SMARCC2):c.1926+2T>C rs1565903353
NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)
NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)
NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly) rs1873193008
NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val) rs1565896447
NM_001330288.2(SMARCC2):c.2953A>G (p.Met985Val)
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro) rs762674487
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn) rs1872594253
NM_001330288.2(SMARCC2):c.320G>A (p.Arg107Gln)
NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs) rs752001894
NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val) rs1872567850
NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)
NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup) rs1872429981
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
NM_001330288.2(SMARCC2):c.346C>T (p.Arg116Cys)
NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu) rs1592324196
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser) rs1876933164
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter) rs1876739249
NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter) rs1565917836
NM_001330288.2(SMARCC2):c.770A>G (p.Tyr257Cys)
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter) rs2135734683
NM_001330288.2(SMARCC2):c.880_881del (p.Gly294fs) rs1488489883
NM_001330288.2(SMARCC2):c.888_889del (p.Tyr296_Lys297delinsTer) rs2135733729

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