ClinVar Miner

List of variants in gene TRPM1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile) rs770561064 0.00007
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter) rs369742878 0.00004
NM_001252024.2(TRPM1):c.1089+1G>A rs1430815251 0.00003
NM_001252024.2(TRPM1):c.1937G>A (p.Arg646His) rs373203358 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001252024.2(TRPM1):c.3127+1G>A rs749930261 0.00003
NM_001252024.2(TRPM1):c.2316+1G>A rs757917155 0.00002
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.2440-2A>G rs762634272 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001252024.2(TRPM1):c.3630-1G>A rs745341246 0.00001
NC_000015.10:g.(?_31026139)_(31050582_?)dup
NC_000015.9:g.(?_31352727)_(31354925_?)dup
NM_001252024.2(TRPM1):c.1438-2A>G
NM_001252024.2(TRPM1):c.1624-8_1629del
NM_001252024.2(TRPM1):c.1794+1G>A
NM_001252024.2(TRPM1):c.233A>G (p.Tyr78Cys)
NM_001252024.2(TRPM1):c.2571+1G>A rs2033455920
NM_001252024.2(TRPM1):c.2572-2A>G
NM_001252024.2(TRPM1):c.279+1G>T rs2140966903
NM_001252024.2(TRPM1):c.280T>C (p.Tyr94His)
NM_001252024.2(TRPM1):c.3148+1G>T
NM_001252024.2(TRPM1):c.618+1G>A
NM_001252024.2(TRPM1):c.790+2T>C
NM_001252024.2(TRPM1):c.83+1G>A
NM_001252024.2(TRPM1):c.84-118_98delinsGTTG
NM_001252024.2(TRPM1):c.966-1G>A

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