ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1 by GeneReviews

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) rs876657417
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NP_005700.2(USH1C):p.Arg357Trp

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