List of variants in gene USH2A studied for cone-rod dystrophy 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs)	rs80338903	0.00055
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)	rs774844491	0.00002
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	rs397517994	0.00001
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)	rs142315587	0.00001
NM_206933.4(USH2A):c.1143+1G>A	rs397517974
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr)	rs751035557
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	rs483353055

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