ClinVar Miner

List of variants in gene MTR reported by Ambry Genetics

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.1291T>G (p.Phe431Val) rs772174532 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.842A>G (p.Tyr281Cys) rs750383628 0.00002
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00002
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.1141G>T (p.Ala381Ser)
NM_000254.3(MTR):c.1256A>G (p.Asp419Gly)
NM_000254.3(MTR):c.1327A>G (p.Lys443Glu)
NM_000254.3(MTR):c.1430G>A (p.Gly477Glu)
NM_000254.3(MTR):c.163G>C (p.Glu55Gln)
NM_000254.3(MTR):c.1780A>G (p.Met594Val)
NM_000254.3(MTR):c.1847A>G (p.Asn616Ser)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2218A>G (p.Met740Val)
NM_000254.3(MTR):c.2308C>T (p.Pro770Ser)
NM_000254.3(MTR):c.2314C>G (p.Gln772Glu)
NM_000254.3(MTR):c.2745T>G (p.Asp915Glu)
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2858C>G (p.Pro953Arg)
NM_000254.3(MTR):c.2911G>A (p.Asp971Asn)
NM_000254.3(MTR):c.2957G>C (p.Gly986Ala)
NM_000254.3(MTR):c.3127G>A (p.Asp1043Asn)
NM_000254.3(MTR):c.3184T>C (p.Phe1062Leu)
NM_000254.3(MTR):c.3280C>T (p.Arg1094Cys)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3493A>G (p.Arg1165Gly)
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3739A>G (p.Ile1247Val)
NM_000254.3(MTR):c.394G>A (p.Val132Ile)
NM_000254.3(MTR):c.463G>C (p.Val155Leu)
NM_000254.3(MTR):c.56G>A (p.Arg19Gln)
NM_000254.3(MTR):c.658C>T (p.Arg220Trp)
NM_000254.3(MTR):c.860A>G (p.Asn287Ser)
NM_000254.3(MTR):c.907A>G (p.Met303Val)

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