ClinVar Miner

List of variants in gene USH2A studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) rs1158010100
NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316
NM_206933.3(USH2A):c.2135del (p.Asn711_Ser712insTer) rs1238314101
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.4758+3A>G rs117798425
NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) rs201386640

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