ClinVar Miner

List of variants reported as benign for Usher syndrome type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NM_000260.4(MYO7A):c.*230A>G rs112830819
NM_000260.4(MYO7A):c.*363A>C rs115872143
NM_000260.4(MYO7A):c.*504C>T rs34765389
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.4(MYO7A):c.286-5C>T rs111033471
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.3924+12C>T rs2276285
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288
NM_000260.4(MYO7A):c.5326+13C>T rs114157944
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293
NM_000260.4(MYO7A):c.5743-12T>C rs2276291
NM_000260.4(MYO7A):c.5857-7A>T rs1320703
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.593-5C>T rs762666
NM_000260.4(MYO7A):c.6052-11G>C rs112564978
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667
NM_022124.6(CDH23):c.*173C>T
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391
NM_022124.6(CDH23):c.3580-12C>T rs73275848
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.429+13G>A rs3802719
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4359+11G>A rs12242607
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.67+12C>T rs74144963
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_033056.4(PCDH15):c.*414G>C rs16937780
NM_033056.4(PCDH15):c.*421C>T rs74134797
NM_033056.4(PCDH15):c.-5A>G rs142016527
NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269
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.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.157+3A>G rs41274636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_153676.4(USH1C):c.*186C>T rs1055577
NM_153676.4(USH1C):c.*211A>G rs1055581
NM_153676.4(USH1C):c.*46T>C rs1055574
NM_153676.4(USH1C):c.-60T>C rs371444878
NM_153676.4(USH1C):c.1086-12G>A rs11024318
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.2226+12C>T rs17703528
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.4(USH1C):c.2490+12G>C rs2072232
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_173477.5(USH1G):c.*1112C>T
NM_173477.5(USH1G):c.*1900G>C rs1568448
NM_173477.5(USH1G):c.*63C>T rs113765180
NM_173477.5(USH1G):c.*940C>G
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466

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