ClinVar Miner

List of variants in gene PCDH19 studied for Inborn genetic diseases

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
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.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773 0.00031
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744 0.00022
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.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435 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.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) rs1309638639 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.479G>A (p.Ser160Asn) rs794726899 0.00002
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338 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.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs) rs1555985372
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr) rs1555985368
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) rs1928409253
NM_001184880.2(PCDH19):c.1226G>C (p.Gly409Ala)
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
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.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1697C>A (p.Pro566Gln) rs1555985059
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) rs1569314377
NM_001184880.2(PCDH19):c.1768G>A (p.Val590Ile)
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) rs1928365978
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) rs1569314284
NM_001184880.2(PCDH19):c.2113C>G (p.Arg705Gly)
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2675+1G>A
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.340G>A (p.Val114Met)
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.582del (p.Ser195fs)
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro) rs772837341
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.788G>A (p.Ser263Asn)
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156

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