ClinVar Miner

List of variants in gene TRPM1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu) rs181499296 0.00111
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser) rs183837653 0.00020
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=) rs376610188 0.00014
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001252024.2(TRPM1):c.2038G>A (p.Glu680Lys) rs794727168 0.00003
NM_001252024.2(TRPM1):c.2228G>A (p.Arg743Gln) rs781460164 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001252024.2(TRPM1):c.4337T>A (p.Phe1446Tyr) rs781295423 0.00003
NM_001252024.2(TRPM1):c.1101C>A (p.Phe367Leu) rs377055431 0.00001
NM_001252024.2(TRPM1):c.1246T>C (p.Phe416Leu) rs750628682 0.00001
NM_001252024.2(TRPM1):c.1886G>A (p.Arg629Gln) rs886042426 0.00001
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=) rs774819442 0.00001
NM_001252024.2(TRPM1):c.746G>A (p.Arg249Gln) rs376701394 0.00001
NM_001252024.2(TRPM1):c.144C>A (p.Ser48Arg) rs1231475557
NM_001252024.2(TRPM1):c.184G>A (p.Glu62Lys) rs781379511
NM_001252024.2(TRPM1):c.2175G>A (p.Leu725=) rs886042252
NM_001252024.2(TRPM1):c.733G>A (p.Glu245Lys) rs756797592
NM_001252024.2(TRPM1):c.880C>T (p.Pro294Ser) rs1475067783

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