ClinVar Miner

List of variants in gene PCDH15 studied for Inborn genetic diseases

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341 0.00219
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_001384140.1(PCDH15):c.4671+1440C>T rs183631592 0.00064
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu) rs143058902 0.00037
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350 0.00018
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln) rs372085398 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=) rs200796871 0.00011
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala) rs780503140 0.00009
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00006
NM_001384140.1(PCDH15):c.4671+1616G>A rs371191414 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys) rs775361471 0.00006
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe) rs747584616 0.00005
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys) rs138398244 0.00004
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364 0.00004
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.4198A>G (p.Arg1400Gly) rs765069475 0.00003
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.4672-1638C>T rs775641445 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_001384140.1(PCDH15):c.250T>C (p.Trp84Arg) rs752604584 0.00001
NM_001384140.1(PCDH15):c.4672-1689G>A rs185457086 0.00001
NM_001384140.1(PCDH15):c.566A>G (p.Tyr189Cys) rs760309437 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NM_001384140.1(PCDH15):c.1010T>C (p.Phe337Ser)
NM_001384140.1(PCDH15):c.1163A>G (p.Glu388Gly)
NM_001384140.1(PCDH15):c.1189A>G (p.Met397Val)
NM_001384140.1(PCDH15):c.1235C>G (p.Ala412Gly)
NM_001384140.1(PCDH15):c.1369A>G (p.Thr457Ala)
NM_001384140.1(PCDH15):c.1468A>G (p.Ser490Gly)
NM_001384140.1(PCDH15):c.1571C>G (p.Pro524Arg)
NM_001384140.1(PCDH15):c.1615G>C (p.Gly539Arg)
NM_001384140.1(PCDH15):c.2048G>A (p.Arg683His)
NM_001384140.1(PCDH15):c.2060T>C (p.Ile687Thr)
NM_001384140.1(PCDH15):c.218T>C (p.Ile73Thr)
NM_001384140.1(PCDH15):c.2291G>A (p.Arg764His)
NM_001384140.1(PCDH15):c.274C>G (p.Gln92Glu)
NM_001384140.1(PCDH15):c.2918C>T (p.Pro973Leu)
NM_001384140.1(PCDH15):c.3101G>T (p.Arg1034Leu) rs907693214
NM_001384140.1(PCDH15):c.3281C>T (p.Pro1094Leu)
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly) rs563855694
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg) rs1303595236
NM_001384140.1(PCDH15):c.3685G>A (p.Gly1229Arg)
NM_001384140.1(PCDH15):c.3778G>A (p.Val1260Met)
NM_001384140.1(PCDH15):c.3866T>C (p.Ile1289Thr)
NM_001384140.1(PCDH15):c.4028C>T (p.Pro1343Leu)
NM_001384140.1(PCDH15):c.4042G>A (p.Gly1348Arg)
NM_001384140.1(PCDH15):c.4043G>C (p.Gly1348Ala)
NM_001384140.1(PCDH15):c.4045G>A (p.Gly1349Arg)
NM_001384140.1(PCDH15):c.4588C>T (p.Arg1530Cys)
NM_001384140.1(PCDH15):c.4592G>A (p.Arg1531His)
NM_001384140.1(PCDH15):c.4649A>G (p.Glu1550Gly)
NM_001384140.1(PCDH15):c.4671+1104C>A
NM_001384140.1(PCDH15):c.4671+1458A>T
NM_001384140.1(PCDH15):c.4671+1535A>T
NM_001384140.1(PCDH15):c.4671+1688G>C
NM_001384140.1(PCDH15):c.5017T>A (p.Phe1673Ile)
NM_001384140.1(PCDH15):c.541G>A (p.Asp181Asn)
NM_001384140.1(PCDH15):c.626T>C (p.Met209Thr)
NM_001384140.1(PCDH15):c.675G>C (p.Lys225Asn) rs1403705158
NM_001384140.1(PCDH15):c.682T>C (p.Tyr228His)
NM_001384140.1(PCDH15):c.695T>C (p.Ile232Thr)
NM_001384140.1(PCDH15):c.875C>T (p.Pro292Leu)
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4579C>T (p.Pro1527Ser)
NM_033056.4(PCDH15):c.4586A>G (p.Tyr1529Cys)
NM_033056.4(PCDH15):c.4586A>T (p.Tyr1529Phe)
NM_033056.4(PCDH15):c.4663A>C (p.Lys1555Gln)
NM_033056.4(PCDH15):c.4898T>G (p.Leu1633Trp)
NM_033056.4(PCDH15):c.4934T>G (p.Leu1645Arg)
NM_033056.4(PCDH15):c.5006T>A (p.Phe1669Tyr)
NM_033056.4(PCDH15):c.5125C>T (p.His1709Tyr)
NM_033056.4(PCDH15):c.5206C>T (p.His1736Tyr)
NM_033056.4(PCDH15):c.5282C>T (p.Ala1761Val)
NM_033056.4(PCDH15):c.5432T>C (p.Leu1811Pro)
NM_033056.4(PCDH15):c.5505T>G (p.Phe1835Leu)
NM_033056.4(PCDH15):c.5716A>G (p.Asn1906Asp)
NM_033056.4(PCDH15):c.5750C>G (p.Thr1917Ser)

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