ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) rs773113395
NM_002473.5(MYH9):c.3682G>A (p.Glu1228Lys) rs746956415
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu) rs199604489
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr) rs769925793
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) rs1280894999
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) rs780743143
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) rs1565476223
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) rs1465018225
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) rs200346409
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2713-8C>A rs184386564
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314
NM_144670.6(A2ML1):c.971-8C>T rs780868782
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282

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