ClinVar Miner

List of variants studied for Usher syndrome type 2 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020989.4(CRYGC):c.143G>A (p.Arg48His) rs61751949 0.01047
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_006314.3(CNKSR1):c.851del (p.Pro284fs) rs781114848
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)

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