ClinVar Miner

List of variants studied for perceptual disorders by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000260.4(MYO7A):c.3997C>T (p.Gln1333Ter)
NM_000260.4(MYO7A):c.736-2A>C
NM_000330.4(RS1):c.127C>T (p.Gln43Ter)
NM_000541.5(SAG):c.648+1G>C rs1700648887
NM_000541.5(SAG):c.649-1G>C rs929766806
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_016239.4(MYO15A):c.5203C>T (p.Arg1735Trp)
NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly) rs1842309816
NM_138691.3(TMC1):c.211_218del (p.Arg71fs)
NM_194248.3(OTOF):c.1248G>A (p.Trp416Ter)
NM_194248.3(OTOF):c.3704_3719dup (p.Ser1240fs)

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