ClinVar Miner

List of variants in gene PCDH19 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 19
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=) rs754570811
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.3077C>T (p.Pro1026Leu) rs762888017
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=) rs1555972516
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298
NM_001184880.2(PCDH19):c.717C>G (p.Ser239Arg) rs199628956
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606

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