ClinVar Miner

List of variants in gene CTCF reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
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.969G>A (p.Lys323=) rs777402247 0.00004
NM_006565.4(CTCF):c.1230T>C (p.Tyr410=) rs758893136 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.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.1434G>A (p.Glu478=)
NM_006565.4(CTCF):c.165C>T (p.Asn55=)
NM_006565.4(CTCF):c.1704T>C (p.Asn568=)
NM_006565.4(CTCF):c.1809C>A (p.Arg603=)
NM_006565.4(CTCF):c.306T>C (p.Asn102=)

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