List of variants in gene USH2A reported as likely pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)	rs201709513	0.00019
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)	rs369522997	0.00006
NM_206933.4(USH2A):c.12295-3T>A	rs111033518	0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)	rs539192853	0.00006
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	rs750396156	0.00004
NM_206933.4(USH2A):c.8682-9A>G	rs372347027	0.00004
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	rs368687374	0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	rs397518026	0.00001
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys)	rs1369414978	0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	rs764182950	0.00001
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter)	rs1183957540
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter)	rs1553261372
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu)	rs1472714005
NM_206933.4(USH2A):c.2810-1G>A	rs778336512
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs)	rs2102549174
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	rs1057518826
NM_206933.4(USH2A):c.8846-1G>T	rs771051185
NM_206933.4(USH2A):c.9391dup (p.Val3131fs)	rs2102796558
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	rs397518048

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