ClinVar Miner

List of variants reported as pathogenic for Usher syndrome type 1 by Sharon lab,Hadassah-Hebrew University Medical Center

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_153676.4(USH1C):c.497-2del rs1480243085
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825

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