List of variants in gene USH2A reported as uncertain significance by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	rs34596189	0.00216
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)	rs56136489	0.00172
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)	rs141609561	0.00107
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	rs149553844	0.00089
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)	rs41302239	0.00081
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)	rs111033450	0.00076
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	rs146824138	0.00071
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)	rs138087806	0.00061
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)	rs140487302	0.00033
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)	rs143275144	0.00031
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)	rs200981928	0.00025
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)	rs141339026	0.00011
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)	rs368681648	0.00010
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	rs541918040	0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)	rs151057466	0.00007
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	rs527236139	0.00006
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)	rs141134147	0.00004
NM_206933.4(USH2A):c.13609C>T (p.Pro4537Ser)	rs1435495561	0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)	rs576236830	0.00003
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)	rs774844491	0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)	rs551424240	0.00002
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)	rs199851839	0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)	rs374144657	0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)	rs137954284	0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	rs748983904	0.00001
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)	rs142315587	0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	rs267598373	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
NM_206933.4(USH2A):c.10109G>T (p.Cys3370Phe)	rs1558099166
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu)	rs1427232199
NM_206933.4(USH2A):c.3316+6T>C	rs373631038
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg)	rs1558311789
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)	rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	rs550772689

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