List of variants reported as likely pathogenic by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	rs111033524	0.00008
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)	rs371947306	0.00003
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)	rs876657419	0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	rs1057519382	0.00002
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)	rs121908356
NM_003977.4(AIP):c.919dup (p.Arg307fs)	rs267606589
NM_004366.6(CLCN2):c.597dup (p.Met200fs)	rs515726131
NM_006894.4(FMO3):c.[472G>A;923A>G]
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)	rs1057519383
NP_005700.2(USH1C):p.Arg357Trp

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