ClinVar Miner

List of variants in gene PCDH19 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 54
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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.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) rs368094294 0.00006
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) rs1325807867 0.00005
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150 0.00004
NM_001184880.2(PCDH19):c.2820C>G (p.Thr940=) rs375040933 0.00002
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=) rs761277974 0.00002
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080 0.00001
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=) rs1266028176 0.00001
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.684G>A (p.Val228=) rs201810406 0.00001
NM_001184880.2(PCDH19):c.1014C>T (p.Asp338=)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1078G>C (p.Glu360Gln) rs1928410872
NM_001184880.2(PCDH19):c.1081A>G (p.Ser361Gly)
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1355A>C (p.His452Pro) rs777851773
NM_001184880.2(PCDH19):c.1505_1554del (p.Val502fs) rs1928379522
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1711G>T (p.Gly571Cys) rs780242225
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2032T>G (p.Ser678Ala) rs1602635161
NM_001184880.2(PCDH19):c.2073C>T (p.Ile691=)
NM_001184880.2(PCDH19):c.2147+1G>A rs1555984947
NM_001184880.2(PCDH19):c.222C>G (p.Ile74Met) rs1064797378
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) rs1602600445
NM_001184880.2(PCDH19):c.2861G>A (p.Gly954Glu)
NM_001184880.2(PCDH19):c.3183G>C (p.Ala1061=)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) rs2147445956
NM_001184880.2(PCDH19):c.3270A>C (p.Pro1090=) rs1924607775
NM_001184880.2(PCDH19):c.339C>T (p.Cys113=)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.387C>A (p.Phe129Leu) rs1238011122
NM_001184880.2(PCDH19):c.564C>A (p.Ala188=) rs1602637704
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.81C>G (p.Tyr27Ter) rs56307810
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) rs1928420254
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) rs796052842

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