ClinVar Miner

List of variants studied for X-linked intellectual disability-epilepsy syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser) rs752424355 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) rs1928233323
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu) rs1928230109
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) rs914370738
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) rs1924620442
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) rs1556347185
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) rs2050407403
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069

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