ClinVar Miner

List of variants in gene CTCF reported by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1164C>T (p.Ser388=) rs143837268 0.01878
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_006565.4(CTCF):c.1986C>G (p.Pro662=) rs148681672 0.00069
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) rs146712579 0.00061
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428 0.00047
NM_006565.4(CTCF):c.1134G>A (p.Pro378=) rs140085378 0.00024
NM_006565.4(CTCF):c.1509T>C (p.Ala503=) rs375387508 0.00014
NM_006565.4(CTCF):c.1314C>T (p.His438=) rs185045573 0.00011
NM_006565.4(CTCF):c.2027A>G (p.Gln676Arg) rs143508499 0.00009
NM_006565.4(CTCF):c.84C>T (p.Arg28=) rs371652969 0.00009
NM_006565.4(CTCF):c.1755G>A (p.Gly585=) rs772552097 0.00006
NM_006565.4(CTCF):c.1772C>T (p.Thr591Met) rs139828150 0.00004
NM_006565.4(CTCF):c.969G>A (p.Lys323=) rs777402247 0.00004
NM_006565.4(CTCF):c.1230T>C (p.Tyr410=) rs758893136 0.00003
NM_006565.4(CTCF):c.2093A>G (p.Glu698Gly) rs996780408 0.00003
NM_006565.4(CTCF):c.1098A>G (p.Leu366=) rs776804939 0.00002
NM_006565.4(CTCF):c.2088C>T (p.Pro696=) rs371078024 0.00002
NM_006565.4(CTCF):c.1409G>A (p.Arg470His) rs1259626314 0.00001
NM_006565.4(CTCF):c.1962A>C (p.Arg654=) rs772451262 0.00001
NM_006565.4(CTCF):c.2089G>A (p.Ala697Thr) rs201916739 0.00001
NM_006565.4(CTCF):c.2157G>A (p.Glu719=) rs778243342 0.00001
NM_006565.4(CTCF):c.1012G>T (p.Val338Phe) rs1555534827
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1115C>T (p.Ser372Phe) rs2052189777
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1169A>T (p.Asp390Val)
NM_006565.4(CTCF):c.121C>T (p.Pro41Ser)
NM_006565.4(CTCF):c.1288C>G (p.His430Asp)
NM_006565.4(CTCF):c.130C>A (p.Gln44Lys)
NM_006565.4(CTCF):c.1402_1415del (p.Lys467_Lys468insTer) rs2052290589
NM_006565.4(CTCF):c.1434G>A (p.Glu478=)
NM_006565.4(CTCF):c.1456C>T (p.Gln486Ter) rs1555535739
NM_006565.4(CTCF):c.1468A>G (p.Lys490Glu) rs1555535747
NM_006565.4(CTCF):c.1531A>G (p.Ile511Val)
NM_006565.4(CTCF):c.165C>T (p.Asn55=)
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1704T>C (p.Asn568=)
NM_006565.4(CTCF):c.1789G>A (p.Gly597Arg)
NM_006565.4(CTCF):c.1809C>A (p.Arg603=)
NM_006565.4(CTCF):c.1810T>C (p.Ser604Pro)
NM_006565.4(CTCF):c.1936C>T (p.Pro646Ser)
NM_006565.4(CTCF):c.2025C>A (p.Asp675Glu)
NM_006565.4(CTCF):c.2036G>A (p.Gly679Asp)
NM_006565.4(CTCF):c.2134C>T (p.Pro712Ser)
NM_006565.4(CTCF):c.247G>C (p.Ala83Pro)
NM_006565.4(CTCF):c.306T>C (p.Asn102=)
NM_006565.4(CTCF):c.388T>C (p.Ser130Pro)
NM_006565.4(CTCF):c.443C>G (p.Ala148Gly)
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.629G>A (p.Ser210Asn)
NM_006565.4(CTCF):c.637C>T (p.Arg213Cys)
NM_006565.4(CTCF):c.65G>A (p.Arg22Lys)
NM_006565.4(CTCF):c.677A>C (p.Tyr226Ser)
NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter) rs1555534067
NM_006565.4(CTCF):c.782-2A>G rs1555534189

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