ClinVar Miner

List of variants studied for Usher syndrome by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_022124.6(CDH23):c.1450-10G>A rs751220612
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn) rs749894314
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313

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