ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) rs759797092
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596
NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser) rs200823464
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893

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