ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) rs186508321 0.00004
NM_001083962.2(TCF4):c.1486+4G>C rs201274415 0.00003
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) rs781392344 0.00003
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) rs148573556 0.00001
NM_001083962.2(TCF4):c.687C>A (p.Ser229=) rs200800656 0.00001
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) rs139859596 0.00001
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter) rs398123560
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) rs1599570613
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) rs1057521070
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro) rs1057524821
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs) rs1555708227
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs) rs796053429
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) rs796053413
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469

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