ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Baylor Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
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.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547

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