ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (31):
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ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658
NM_052995.2(CLRN1):c.209C>A (p.Ser70Tyr)
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)

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