ClinVar Miner

List of variants in gene PCDH19 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=) rs199879056 0.00011
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=) rs1178813036 0.00008
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553 0.00007
NM_001184880.2(PCDH19):c.573G>C (p.Val191=) rs766347338 0.00007
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 0.00005
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684 0.00002
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=) rs773244265 0.00002
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035 0.00001
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=) rs754032170 0.00001
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=) rs1466130318 0.00001
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524 0.00001
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) rs201810406 0.00001
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
NM_001184880.2(PCDH19):c.1431T>C (p.Ala477=)
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=) rs779051005
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)

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