ClinVar Miner

List of variants studied for Usher syndrome type 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser) rs376348438 0.00019
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp) rs534291510 0.00001
NM_000260.4(MYO7A):c.3514T>A (p.Tyr1172Asn) rs1955862943 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.5174C>A (p.Pro1725Gln)
NM_000260.4(MYO7A):c.5861T>C (p.Leu1954Pro)
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655

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