ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
MYO7A, IVS27AS, G-C, -1
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) rs1555062984
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter) rs137853004
NM_001384140.1(PCDH15):c.3718-2A>G rs1307471318
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_153676.4(USH1C):c.2227-1G>A rs778110397
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.36+1G>T rs1403777293
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) rs104894652
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro) rs104894651
NM_173477.5(USH1G):c.163_164+13del
NM_173477.5(USH1G):c.186_187del (p.Ile63fs) rs730880268
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345

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