ClinVar Miner

List of variants in gene PCDH15 reported as benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_001142769.3(PCDH15):c.4487G>A (p.Gly1496Asp) rs41274622
NM_001142769.3(PCDH15):c.4498_4500GAA[1] (p.Glu1501del) rs561144747
NM_001142769.3(PCDH15):c.5295A>G (p.Pro1765=) rs145178582
NM_001142771.2(PCDH15):c.4497+1046A>G rs201855435
NM_001142771.2(PCDH15):c.4497+1053A>C rs149208928
NM_001142771.2(PCDH15):c.4497+1087C>T rs12359240
NM_001142771.2(PCDH15):c.4497+1109C>T rs145418788
NM_001142771.2(PCDH15):c.4497+1114A>C rs16937769
NM_001142771.2(PCDH15):c.4497+1344A>C rs11003863
NM_001142771.2(PCDH15):c.4497+1344_4497+1345delinsCC rs1554815737
NM_001142771.2(PCDH15):c.4497+1345G>C rs531574437
NM_001142771.2(PCDH15):c.4497+1438A>C rs16937768
NM_001142771.2(PCDH15):c.4498-1637G>A rs139441645
NM_001142771.2(PCDH15):c.4498-1699G>A rs7090408
NM_001142771.2(PCDH15):c.4554_4556dup (p.Thr1519dup) rs143978284
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142771.2(PCDH15):c.4950G>A (p.Lys1650=) rs74609306
NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) rs17704703
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
NM_033056.4(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.1306-4123C>T rs16905686
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.4(PCDH15):c.1590+17_1590+21del rs202125339
NM_033056.4(PCDH15):c.1590+20= rs7093302
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1917+13GT[10] rs5785040
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.3502-14del rs5785023
NM_033056.4(PCDH15):c.3502-22dup rs5785023
NM_033056.4(PCDH15):c.3502-8C>T rs184144118
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3717+8G>C rs200556301
NM_033056.4(PCDH15):c.3718-19C>A rs75248212
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.3984-20C>T rs7089209
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781
NM_033056.4(PCDH15):c.5260_5268TCTCCTCCT[1] (p.1754_1756SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.706-8= rs10740579
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634

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