ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_005709.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_005709.4(USH1C):c.1426dup (p.Ile476fs) rs758555088
NM_005709.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2227-1G>T rs778110397
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2281-2A>G rs921755529
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.248+1G>A rs1482487617
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.760-1G>T rs1187887456
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.877-1G>A rs771279169

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