ClinVar Miner

List of variants reported as uncertain significance for Pitt-Hopkins-like syndrome by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684 0.00016
NM_014141.6(CNTNAP2):c.1636A>G (p.Asn546Asp) rs142149051 0.00004
NM_014141.6(CNTNAP2):c.2240C>T (p.Ala747Val) rs200214541 0.00003
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760 0.00003
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014141.6(CNTNAP2):c.3431C>G (p.Thr1144Ser) rs775781258 0.00002
NM_001330078.2(NRXN1):c.1715A>G (p.Asp572Gly) rs1558925182 0.00001
NM_001330078.2(NRXN1):c.2285A>G (p.Asp762Gly) rs2093098989 0.00001
NM_014141.6(CNTNAP2):c.343A>C (p.Met115Leu) rs758526505 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014141.6(CNTNAP2):c.3965T>C (p.Ile1322Thr) rs770332632 0.00001
NM_014141.6(CNTNAP2):c.815A>G (p.Asp272Gly) rs772500302 0.00001
NM_001330078.2(NRXN1):c.1159-4C>G rs1573821641
NM_001330078.2(NRXN1):c.2303G>A (p.Arg768His) rs1163896637
NM_001330078.2(NRXN1):c.2747T>C (p.Val916Ala) rs2091700962
NM_001330078.2(NRXN1):c.3458C>T (p.Ala1153Val) rs2065486936
NM_014141.6(CNTNAP2):c.103T>C (p.Cys35Arg) rs753486205
NM_014141.6(CNTNAP2):c.3698T>C (p.Leu1233Pro) rs1799130762
NM_014141.6(CNTNAP2):c.3850C>T (p.Arg1284Trp) rs763809167
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.55A>G (p.Ser19Gly) rs1797492098
NM_014141.6(CNTNAP2):c.905A>G (p.Asn302Ser) rs1060503569

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