ClinVar Miner

List of variants studied for Coffin-Siris syndrome

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Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32485
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03292
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.00935
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00668
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00426
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00401
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00367
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_003072.5(SMARCA4):c.-43C>T rs574982898 0.00275
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00229
NM_003072.5(SMARCA4):c.-72C>T rs559144002 0.00196
NM_003072.5(SMARCA4):c.*401G>A rs559071626 0.00189
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00123
NM_003072.5(SMARCA4):c.*327T>C rs146968124 0.00109
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00084
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00064
NM_003072.5(SMARCA4):c.*299C>T rs772399601 0.00056
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00040
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.*25C>T rs189436737 0.00034
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00029
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00025
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00020
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00020
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.4171-1858T>A rs201309716 0.00018
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile) rs375250508 0.00016
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00015
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00011
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00011
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_001374828.1(ARID1B):c.1951G>A (p.Gly651Arg) rs765362265 0.00004
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_001374828.1(ARID1B):c.4129A>G (p.Met1377Val) rs138784762 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00003
NM_001374828.1(ARID1B):c.5096C>T (p.Pro1699Leu) rs1455506883 0.00002
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962 0.00002
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu) rs375849292 0.00002
NM_001128849.2(SMARCA4):c.*464G>T rs886054156 0.00001
NM_001374828.1(ARID1B):c.493C>A (p.Gln165Lys) rs1460103880 0.00001
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val) rs766875935 0.00001
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp) rs920305028 0.00001
NM_003072.5(SMARCA4):c.*346G>A rs754087248 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=) rs775610559 0.00001
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=) rs767915497 0.00001
NM_003072.5(SMARCA4):c.355+9C>T rs767575401 0.00001
NM_003072.5(SMARCA4):c.3775-12A>G rs770956288 0.00001
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_001374828.1(ARID1B):c.1281_1292del (p.Ala430_Ala433del)
NM_001374828.1(ARID1B):c.1436G>A (p.Gly479Asp)
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr) rs1562378653
NM_001374828.1(ARID1B):c.3029G>T (p.Arg1010Leu)
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs) rs1057519009
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs) rs2128372930
NM_001374828.1(ARID1B):c.519CCA[8] (p.His178_His179dup) rs754114025
NM_001374828.1(ARID1B):c.5394+1G>A rs1057518984
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs) rs2128393408
NM_001374828.1(ARID1B):c.612_620del (p.Gln212_Gln214del) rs797045274
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)
NM_003072.5(SMARCA4):c.*34C>G rs780956095
NM_003072.5(SMARCA4):c.-32+11C>T rs886054150
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1761+6C>T rs886054152
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.2194T>G (p.Tyr732Asp)
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_003072.5(SMARCA4):c.2616+14G>T rs886054154
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*70C>T
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1119-12C>G rs1295969050
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.796-1G>A rs2146026614
NM_003073.5(SMARCB1):c.93+559A>G
NM_003073.5(SMARCB1):c.986+2T>C rs2030331202
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) rs777773061
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu) rs2081052495
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs) rs2081053573
NM_006015.6(ARID1A):c.3344C>G (p.Pro1115Arg)
NM_006015.6(ARID1A):c.3902G>A (p.Ser1301Asn)
NM_006015.6(ARID1A):c.6163A>G (p.Met2055Val)
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771
NM_006015.6(ARID1A):c.908G>C (p.Ser303Thr)
NM_006268.5(DPF2):c.433G>A (p.Glu145Lys)
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912
NM_152641.4(ARID2):c.2842C>T (p.Leu948Phe)
NM_152641.4(ARID2):c.2927C>G (p.Pro976Arg) rs1320142801
NM_152641.4(ARID2):c.2974T>A (p.Ser992Thr)
NM_152641.4(ARID2):c.3964A>T (p.Ile1322Phe)

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