ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001083962.2(TCF4):c.789+18G>A rs541018682 0.00001
NM_001083962.2(TCF4):c.1146+1G>A rs587784458
NM_001083962.2(TCF4):c.146-46442G>T rs1164726138
NM_001083962.2(TCF4):c.369+6_369+7del rs773484932
NM_001083962.2(TCF4):c.500-1G>A rs1057518864
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu) rs2097674336

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