ClinVar Miner

List of variants in gene TCF4 studied for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001083962.2(TCF4):c.550-22780G>A rs962581774 0.00001
NG_011716.2:g.54765TGC[51_?]
NM_001083962.2(TCF4):c.-21+2T>A rs1568471128
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) rs1600404795
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer) rs1568622225
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) rs1555796645

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