ClinVar Miner

List of variants in gene PCDH19 studied for History of neurodevelopmental disorder

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Total variants: 36
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001184880.2(PCDH19):c.1569C>T (p.His523=) rs753119035
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
NM_001184880.2(PCDH19):c.1748T>C (p.Ile583Thr) rs1569314377
NM_001184880.2(PCDH19):c.1864G>A (p.Gly622Ser) rs1569314284
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr)
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser)
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.593G>C (p.Arg198Pro)
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156

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