ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic

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Total variants: 39
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HGVS dbSNP
GRCh38/hg38 10q21.1(chr10:53954459-54098171)x0
NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del
NM_001142769.3(PCDH15):c.4726C>T (p.Gln1576Ter) rs1056396947
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del (p.(?))
NM_033056.3(PCDH15):c.706-3_717delCAGGACCGTGCCCAA rs769348776
NM_033056.3:c.92-13779_157+41368del
NM_033056.4(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_033056.4(PCDH15):c.1209T>G (p.Tyr403Ter)
NM_033056.4(PCDH15):c.1475dup (p.Val493fs)
NM_033056.4(PCDH15):c.158-1G>A rs876657418
NM_033056.4(PCDH15):c.1583T>A (p.Val528Asp) rs267606932
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3661C>T (p.Gln1221Ter)
NM_033056.4(PCDH15):c.366del (p.Asn122fs)
NM_033056.4(PCDH15):c.3946del (p.Gln1316fs)
NM_033056.4(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4035T>A (p.Tyr1345Ter) rs1057520678
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_033056.4(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
PCDH15, 3-BP DEL, 5601AAC
PCDH15, IVS27, A-G, -2

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