ClinVar Miner

List of variants in gene PCDH15 reported as benign for Usher syndrome type 1F

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.2869-109T>C rs2456699 0.77156
NM_001384140.1(PCDH15):c.3374-72A>G rs2593124 0.75471
NM_001384140.1(PCDH15):c.705+93C>T rs857395 0.74876
NM_001384140.1(PCDH15):c.3374-68T>G rs10740559 0.74015
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_001384140.1(PCDH15):c.986-81C>T rs10763086 0.71010
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.4367+119T>C rs10740555 0.43920
NM_001384140.1(PCDH15):c.4203-151C>A rs4935096 0.38898
NM_001384140.1(PCDH15):c.4203-162T>C rs4935472 0.38838
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001384140.1(PCDH15):c.3717+35T>C rs10825135 0.35243
NM_001384140.1(PCDH15):c.594+232A>G rs2153822 0.26148
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.2220+47T>C rs3812657 0.22115
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.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_001384140.1(PCDH15):c.157+59097T>C rs75443986 0.09222
NM_001384140.1(PCDH15):c.2752-75C>G rs2253647 0.07354
NM_001384140.1(PCDH15):c.1591-68G>A rs41274632 0.07262
NM_001384140.1(PCDH15):c.2868+69G>A rs11003980 0.05390
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_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
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.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001384140.1(PCDH15):c.4367+88A>G rs45466098 0.00811
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_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
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.1362C>T (p.Val454=) rs61735479 0.00267
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
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.243G>A (p.Val81=) rs151119732 0.00073
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.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
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.3502-14dup rs5785023
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.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047

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