ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298 0.00001
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_006517.5(SLC16A2):c.-53A>C rs587784385

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