ClinVar Miner

List of variants studied for Coffin-Siris syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912

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