ClinVar Miner

List of variants in gene MTR reported as benign for Methylcobalamin deficiency type cblG

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Total variants: 66
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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.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.3665A>G (p.Asn1222Ser) rs61739582 0.02033
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.2474-19T>A rs11809449 0.00849
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.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
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.1485G>A (p.Met495Ile) rs2229275 0.00265
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.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
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.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
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.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.927+14dup

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