List of variants reported as likely pathogenic for Coffin-Siris syndrome 1

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		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)	rs1451259945	0.00004
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)	rs1778944605
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)	rs1779004027
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)	rs1779032666
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
NM_001374828.1(ARID1B):c.1987-29742G>A	rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)	rs773640553
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)	rs1582908829
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)	rs2128210922
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)	rs2128210949
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)	rs1583280025
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)	rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C	rs1057524160
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)	rs1085307695
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)	rs1057518648
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)	rs2128634579
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)	rs1583451146
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)	rs1131692263
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)	rs1792478147
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs)	rs2128317569
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)	rs1583469292
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)	rs2128325428
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_001374828.1(ARID1B):c.4232-1G>A
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)	rs1554234402
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)	rs1794042593
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)	rs797045278
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)	rs2128374043
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)	rs1064793482
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)	rs1583502875
NM_001374828.1(ARID1B):c.5264-2A>G	rs1794274425
NM_001374828.1(ARID1B):c.5394+3A>C	rs1794283740
NM_001374828.1(ARID1B):c.5395-1G>A
NM_001374828.1(ARID1B):c.5395-2A>C	rs1562350940
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)	rs2128391037
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)	rs2128392250
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)	rs1794456297
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)	rs1554237269
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)	rs1451259945
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)	rs1369594791
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)	rs2128393700
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)	rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)	rs886041878
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)	rs1583516082
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)	rs1794550318
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs)	rs1562354784
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)	rs2128398868
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)	rs758120346
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)	rs1794584714
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)	rs1553152590

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