List of variants reported as pathogenic for Usher syndrome, type 4 by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)	rs199566950	0.00003
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)	rs141748845	0.00001
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)	rs1244718647	0.00001
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)
NM_001267727.2(ARSG):c.1212+1G>A
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)	rs751663413
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	rs751461705
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)	rs1568445893
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)
NM_001267727.2(ARSG):c.705-3940_982+2952del

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