ClinVar Miner

List of variants studied for arakawa syndrome 2

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Total variants: 29
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HGVS dbSNP
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
NC_000001.11:g.(?_236795684)_(236897664_?)del
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000254.2(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)
NM_000254.2(MTR):c.1954-6A>G rs1553321372
NM_000254.2(MTR):c.2114_2115del (p.Leu705Glnfs) rs797044444
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.2622G>A (p.Pro874=) rs141919148
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3380dup (p.Ala1128Glyfs) rs797044445
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.899C>T (p.Thr300Met)

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