ClinVar Miner

List of variants in gene combination LOC122152296, USH2A reported as uncertain significance for Usher syndrome type 2A

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr) rs180994250 0.00009
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile) rs199571930 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) rs145383772 0.00005
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr) rs375656256 0.00004
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) rs752748453 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr) rs192119790 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) rs769767476 0.00001
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile) rs932726287 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg) rs376591221 0.00001
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) rs969374126
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) rs2036055708
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626

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