ClinVar Miner

List of variants in gene PCDH15 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_001384140.1(PCDH15):c.3010-48G>A rs2593107 0.70086
NM_001384140.1(PCDH15):c.2751+37C>T rs3812658 0.59606
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001384140.1(PCDH15):c.319-31T>C rs11594958 0.20278
NM_001384140.1(PCDH15):c.2751+43C>G rs2660169 0.16984
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.877-29G>T rs116339167 0.01544
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
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.4671+1109C>T rs145418788 0.00208
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_001384140.1(PCDH15):c.4803C>T (p.Gly1601=) rs190105984 0.00032
NM_001384140.1(PCDH15):c.4203-8C>G rs200840022 0.00031
NM_001384140.1(PCDH15):c.2223A>G (p.Ala741=) rs201332784 0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.4671+1642T>C rs182175548 0.00021
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=) rs200796871 0.00011
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=) rs770371293 0.00007
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val) rs747028333 0.00002
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.3010-7T>C rs781753578 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_001384140.1(PCDH15):c.1022A>G (p.His341Arg)
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.22_23delinsC (p.Trp8fs)
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=) rs559193058
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384140.1(PCDH15):c.4672-1601G>T
NM_001384140.1(PCDH15):c.4672-8_4672-4del rs528346155
NM_001384140.1(PCDH15):c.5052G>A (p.Ala1684=)
NM_001384140.1(PCDH15):c.594+10T>G
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4633A>G (p.Arg1545Gly)
NM_033056.4(PCDH15):c.4851_4854del (p.Asn1617fs)
NM_033056.4(PCDH15):c.5023C>G (p.Pro1675Ala)
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164

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