ClinVar Miner

List of variants in gene MTR reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.-6G>C rs183719210 0.00123
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00003
NM_000254.3(MTR):c.842A>G (p.Tyr281Cys) rs750383628 0.00002
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2656G>A (p.Ala886Thr) rs1349129209 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.461C>T (p.Ser154Phe) rs1311934439 0.00001
NM_000254.3(MTR):c.118A>G (p.Met40Val)
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1760T>C (p.Met587Thr)
NM_000254.3(MTR):c.2353C>A (p.His785Asn) rs2103313766
NM_000254.3(MTR):c.2857C>T (p.Pro953Ser)
NM_000254.3(MTR):c.2911G>A (p.Asp971Asn)
NM_000254.3(MTR):c.3142_3144delinsACG (p.Ala1048Thr) rs1064796193
NM_000254.3(MTR):c.3292G>T (p.Gly1098Cys)
NM_000254.3(MTR):c.3416A>G (p.Glu1139Gly)
NM_000254.3(MTR):c.3443A>T (p.Glu1148Val)
NM_000254.3(MTR):c.3560T>C (p.Leu1187Pro)
NM_000254.3(MTR):c.503-5del
NM_000254.3(MTR):c.547C>G (p.Leu183Val)
NM_000254.3(MTR):c.959T>G (p.Val320Gly) rs1249121056

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