ClinVar Miner

List of variants in gene PCDH19 reported by Invitae

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Gene type:
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Total variants: 106
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HGVS dbSNP
NC_000023.11:g.(?_100296257)_(100296895_?)del
NM_001105243.1(PCDH19):c.1059_1062delTGAG (p.Glu354Leufs) rs796052828
NM_001105243.1(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.2328G>A (p.Leu776=) rs61744561
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.2877C>T (p.Asp959=) rs16983426
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.1(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.1(PCDH19):c.1091dupC (p.Tyr366Leufs) rs758946412
NM_001184880.1(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.1(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.1(PCDH19):c.1121_1122delCT (p.Ser374Terfs)
NM_001184880.1(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.1(PCDH19):c.1148G>A (p.Arg383His)
NM_001184880.1(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359
NM_001184880.1(PCDH19):c.1183C>A (p.Arg395=) rs769967221
NM_001184880.1(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.1(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.1(PCDH19):c.1292C>G (p.Pro431Arg)
NM_001184880.1(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.1(PCDH19):c.1342G>T (p.Asp448Tyr)
NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.1(PCDH19):c.1355A>G (p.His452Arg)
NM_001184880.1(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.1(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.1(PCDH19):c.1442_1448delACCTGGG (p.Asp481Valfs) rs1555985163
NM_001184880.1(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.1(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.1(PCDH19):c.1521dup (p.Ile508Hisfs) rs1131691646
NM_001184880.1(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.1(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.1(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.1(PCDH19):c.1853_1857delACCAGinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
NM_001184880.1(PCDH19):c.1854C>G (p.Asp618Glu)
NM_001184880.1(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.1(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.1(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.1(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.1(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.1(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935
NM_001184880.1(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369
NM_001184880.1(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.1(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.1(PCDH19):c.2308G>C (p.Gly770Arg)
NM_001184880.1(PCDH19):c.2341delA (p.Ile781Serfs) rs1060502175
NM_001184880.1(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337
NM_001184880.1(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.1(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928
NM_001184880.1(PCDH19):c.242T>G (p.Leu81Arg)
NM_001184880.1(PCDH19):c.2453delA (p.Gln818Argfs) rs1555984453
NM_001184880.1(PCDH19):c.2479C>G (p.Arg827Gly)
NM_001184880.1(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.1(PCDH19):c.2657G>A (p.Arg886Gln)
NM_001184880.1(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.1(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.1(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080
NM_001184880.1(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.1(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.1(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.1(PCDH19):c.3021C>G (p.Asp1007Glu)
NM_001184880.1(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.1(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.1(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249
NM_001184880.1(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001184880.1(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.1(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.1(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3299A>G (p.Asn1100Ser)
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3341G>C (p.Arg1114Pro)
NM_001184880.1(PCDH19):c.3370G>C (p.Glu1124Gln)
NM_001184880.1(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203
NM_001184880.1(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.1(PCDH19):c.3412C>T (p.Pro1138Ser) rs778782448
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.1(PCDH19):c.545G>C (p.Gly182Ala) rs727504067
NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val) rs764980282
NM_001184880.1(PCDH19):c.571G>C (p.Val191Leu) rs753757730
NM_001184880.1(PCDH19):c.58G>C (p.Ala20Pro)
NM_001184880.1(PCDH19):c.619delC (p.Arg207Glufs) rs1555985543
NM_001184880.1(PCDH19):c.650C>A (p.Pro217Gln) rs200142964
NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.1(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.1(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.1(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.1(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.1(PCDH19):c.792T>G (p.Asp264Glu)
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.827_829delCCT (p.Ser276del)
NM_001184880.1(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.1(PCDH19):c.858C>T (p.Arg286=) rs779759129
NM_001184880.1(PCDH19):c.875_879dup (p.His294Thrfs) rs1555985416
NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.1(PCDH19):c.918C>G (p.Tyr306Ter)
NM_001184880.1(PCDH19):c.91G>A (p.Glu31Lys)
NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) rs773740606

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