ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 1 by Nilou-Genome Lab

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827
NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436
NM_033056.4(PCDH15):c.131T>C (p.Val44Ala) rs750302536
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797

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