ClinVar Miner

List of variants reported as benign for Pitt-Hopkins syndrome by Invitae

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001083962.2(TCF4):c.1351-19G>A rs200963418 0.00162
NM_001083962.2(TCF4):c.305-14G>A rs187703131 0.00084
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804 0.00051
NM_001083962.2(TCF4):c.990+12T>C rs144346949 0.00016
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001083962.2(TCF4):c.146-11C>G rs191464553 0.00011
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462 0.00006
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) rs138403996 0.00005
NM_001083962.2(TCF4):c.1194T>C (p.His398=) rs200225114 0.00004
NM_001083962.2(TCF4):c.1486+4G>C rs201274415 0.00003
NM_001083962.2(TCF4):c.1650-14C>T rs569480730 0.00002
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) rs773462232 0.00002
NM_001083962.2(TCF4):c.1070-5A>G rs1416559433 0.00001
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) rs759754956 0.00001
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) rs774283982 0.00001
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) rs200359873 0.00001
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) rs1329250167 0.00001
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) rs771829952 0.00001
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) rs2145501402
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) rs1555717654
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) rs1220562859
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) rs112222111
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) rs2146490420
NM_001083962.2(TCF4):c.369+12T>G rs777983584
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) rs2082192813
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) rs1438864984
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) rs753332007
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) rs768573052
NM_001083962.2(TCF4):c.790-17del rs2145958975
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)
NM_001083962.2(TCF4):c.991-18del
NM_001083962.2(TCF4):c.991-18dup rs138389096

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