ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NC_000007.13:g.144520633_145949971del
NG_007092.2:g.1180537_1293253del
NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter) rs267606922
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.5(CNTNAP2):c.(?_97)+117643_(1670_?)+6605del
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) rs201076428
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) rs1554400338
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275
NRXN1, 180-KB DEL, EX1-4
NRXN1, 287-KB DEL
NRXN1, 79-KB DEL

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