ClinVar Miner

List of variants studied for Usher syndrome type 1F by Genome-Nilou Lab

Included ClinVar conditions (2):
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Total variants: 63
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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.92-52T>G rs10825347 0.50625
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+3A>G rs41274636 0.09581
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_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001384140.1(PCDH15):c.4367+88A>G rs45466098 0.00811
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile) rs200784596 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg) rs778508372 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) rs139104747 0.00001
NM_033056.4(PCDH15):c.5655C>T (p.His1885=) rs758953502 0.00001
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) rs2133060549
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala) rs2134276764
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=) rs2133038894
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys) rs2132762710
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=) rs150450873
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg) rs1564533607
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe) rs2132483191

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