ClinVar Miner

List of variants in gene PCDH19 reported as likely pathogenic for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NC_000023.10:g.(?_99640151)_(99663517_?)del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1241A>G (p.Glu414Gly)
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) rs1928395285
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) rs1928380918
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs) rs2147538465
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) rs748611349
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) rs1928365978
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) rs1928358562
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) rs1928356260
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) rs2147542320
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) rs2147445956
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) rs2147542056
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>A (p.Asp155Asn) rs796052800
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) rs2147541358
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) rs1928446616
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter) rs1602637608
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) rs2147540748
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) rs1928431321
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter) rs766962106
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) rs1928480582
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) rs1459520904
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) rs2147540049
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del

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