ClinVar Miner

List of variants in gene PCDH15 reported as benign for not specified

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Gene type:
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Total variants: 89
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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.706-8= rs10740579 0.28394
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.5156A>C (p.Gln1719Pro) rs17704703 0.20017
NM_001384140.1(PCDH15):c.1306-4123C>T rs16905686 0.17435
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_001384140.1(PCDH15):c.2751+43C>G rs2660169 0.16984
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
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.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001384140.1(PCDH15):c.4671+1114A>C rs16937769 0.01163
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp) rs41274622 0.00741
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
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.-5A>G rs142016527 0.00570
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891 0.00486
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=) rs148772706 0.00278
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_001384140.1(PCDH15):c.4672-1699G>A rs7090408 0.00227
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
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_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
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.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.1590+17_1590+21del rs202125339
NM_001384140.1(PCDH15):c.1590+20= rs7093302
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
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.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC rs1554815737
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup) rs143978284
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.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047

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