ClinVar Miner

List of variants in gene PCDH19 reported as likely benign for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342

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