ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala) rs779001003 0.00001
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2236+2T>G
NM_015404.4(WHRN):c.2238del (p.Ala747fs)
NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter) rs372472927
NM_015404.4(WHRN):c.2418+1G>A
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.618+2del
NM_015404.4(WHRN):c.816_817delinsTT (p.Gln273Ter)
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551

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