ClinVar Miner

List of variants in gene combination LOC125467768, PCDH19 reported as pathogenic for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_100296257)_(100408617_?)del
NM_001184880.2(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter) rs2147534335
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
NM_001184880.2(PCDH19):c.2295del (p.Glu766fs)
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter) rs1471944316
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter) rs2147533439
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs) rs2147533347
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs) rs1928224021
NM_001184880.2(PCDH19):c.2488_2489del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2490del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs) rs2147533148
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) rs1928217378
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs) rs2147533042
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) rs1928216298
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) rs2147532974
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)

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