ClinVar Miner

List of variants in gene USH2A reported as likely benign by GeneDx

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Gene type:
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Total variants: 64
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HGVS dbSNP
GRCh38/hg38 1q41(chr1:216092120-216123973)x1
NM_206933.3(USH2A):c.12624C>T (p.Asp4208=) rs375223901
NM_206933.3(USH2A):c.12765G>C (p.Val4255=) rs1361278640
NM_206933.3(USH2A):c.14134-9T>C rs899521308
NM_206933.3(USH2A):c.14642G>C (p.Ser4881Thr) rs200949691
NM_206933.3(USH2A):c.147T>C (p.Val49=) rs1553258114
NM_206933.3(USH2A):c.15144G>C (p.Ala5048=) rs397517998
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2169G>A (p.Gly723=) rs751156464
NM_206933.3(USH2A):c.2643G>A (p.Gln881=) rs1286317611
NM_206933.3(USH2A):c.2994-10T>G rs748702655
NM_206933.3(USH2A):c.3531T>C (p.Gly1177=) rs149570469
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.5538G>C (p.Leu1846=) rs370356689
NM_206933.3(USH2A):c.7167C>T (p.Ser2389=) rs200243588
NM_206933.3(USH2A):c.7300+29A>G rs41277208
NM_206933.3(USH2A):c.8028G>A (p.Pro2676=) rs766443785
NM_206933.3(USH2A):c.8190T>A (p.Pro2730=) rs1553273294
NM_206933.3(USH2A):c.9816G>A (p.Pro3272=) rs745566865
NM_206933.3(USH2A):c.9958+6G>A rs1553263549
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) rs79654794
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) rs200570742
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) rs375083165
NM_206933.4(USH2A):c.3158-7A>G rs201558076
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479
NM_206933.4(USH2A):c.485+12T>C rs201857884
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) rs115039883
NM_206933.4(USH2A):c.6325+13G>A rs368490585
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500
NM_206933.4(USH2A):c.8846-88del rs558614513
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721
NM_206933.4(USH2A):c.9959-11T>G rs116150014

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