ClinVar Miner

List of variants in gene combination LOC125467768, PCDH19 reported as likely benign for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=) rs751223449 0.00005
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=) rs768467022 0.00004
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=) rs754841050 0.00004
NM_001184880.2(PCDH19):c.2289-11C>G rs777190334 0.00002
NM_001184880.2(PCDH19):c.2451C>T (p.His817=) rs759932441 0.00002
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=) rs766769854 0.00002
NM_001184880.2(PCDH19):c.2288+9G>T rs753792839 0.00001
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485 0.00001
NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=) rs374726171 0.00001
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=) rs371444167 0.00001
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=) rs2147534303
NM_001184880.2(PCDH19):c.2288+16C>T
NM_001184880.2(PCDH19):c.2288+9G>C
NM_001184880.2(PCDH19):c.2289-4A>G rs2147533541
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=) rs1057524610
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn) rs765066118
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=) rs200756110
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=) rs1602632552
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)
NM_001184880.2(PCDH19):c.2499G>A (p.Leu833=) rs2147533161
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=) rs2147533082
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=) rs1480768621
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=) rs1480768621

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