ClinVar Miner

List of variants in gene MTR reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320

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