ClinVar Miner

List of variants in gene WHRN reported as benign for Usher syndrome type 2

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_015404.4(WHRN):c.*438T>G rs114641960 0.02166
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_015404.4(WHRN):c.-314C>T rs57258861

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