ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) rs201625237
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) rs777701725
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) rs45555435
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) rs1571762632

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