ClinVar Miner

List of variants in gene MTR studied for not specified

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Total variants: 67
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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.2044-11G>T rs570088952 0.46085
NM_000254.3(MTR):c.2044-9C>T rs531027742 0.43868
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
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
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000254.3(MTR):c.639T>C (p.Phe213=) rs568734591 0.00020
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000254.3(MTR):c.3405+18C>T rs374485228 0.00016
NM_000254.3(MTR):c.2043+10A>G rs375005444 0.00013
NM_000254.3(MTR):c.35-19A>G rs372886393 0.00013
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000254.3(MTR):c.1086C>G (p.Pro362=) rs779393795 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2473+14A>G rs193210789 0.00003
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) rs767100856 0.00003
NM_000254.3(MTR):c.1395G>A (p.Gly465=) rs372015549 0.00002
NM_000254.3(MTR):c.1953+7A>G rs777871271 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2775+17G>T rs763995449 0.00002
NM_000254.3(MTR):c.2910G>A (p.Val970=) rs769690083 0.00002
NM_000254.3(MTR):c.486G>A (p.Pro162=) rs747494979 0.00002
NM_000254.3(MTR):c.108G>A (p.Gly36=) rs1057523951 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) rs750050502 0.00001
NM_000254.3(MTR):c.609+1092G>A rs1057521391 0.00001
NM_000254.3(MTR):c.-16GAG[1] rs1064794430
NM_000254.3(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.3003A>T (p.Thr1001=) rs1057520933
NM_000254.3(MTR):c.3711+8A>C rs1057523709
NM_000254.3(MTR):c.409+15_409+17del rs750828089
NM_000254.3(MTR):c.609+10G>A rs956538334
NM_000254.3(MTR):c.765-5del rs1064795174

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