ClinVar Miner

List of variants in gene CMTR1 studied for not specified

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015050.3(CMTR1):c.89C>T (p.Thr30Met) rs757196500 0.00006
NM_015050.3(CMTR1):c.1036C>T (p.Arg346Trp) rs372628932 0.00003
NM_015050.3(CMTR1):c.140C>T (p.Thr47Ile) rs199613780 0.00003
NM_015050.3(CMTR1):c.1813G>A (p.Gly605Ser) rs771375770 0.00003
NM_015050.3(CMTR1):c.398G>A (p.Arg133Gln) rs748538599 0.00003
NM_015050.3(CMTR1):c.1187G>A (p.Arg396Gln) rs201318299 0.00002
NM_015050.3(CMTR1):c.1972A>G (p.Ile658Val) rs368202393 0.00002
NM_015050.3(CMTR1):c.103C>T (p.Pro35Ser) rs2481623402 0.00001
NM_015050.3(CMTR1):c.1135C>T (p.Leu379Phe) rs763480457 0.00001
NM_015050.3(CMTR1):c.1222C>G (p.Leu408Val) rs778441597 0.00001
NM_015050.3(CMTR1):c.1418C>T (p.Thr473Met) rs556222451 0.00001
NM_015050.3(CMTR1):c.164G>A (p.Ser55Asn) rs756351825 0.00001
NM_015050.3(CMTR1):c.205G>A (p.Asp69Asn) rs757985081 0.00001
NM_015050.3(CMTR1):c.2422C>T (p.Arg808Cys) rs370260333 0.00001
NM_015050.3(CMTR1):c.310G>A (p.Glu104Lys) rs1771793157 0.00001
NM_015050.3(CMTR1):c.449G>A (p.Ser150Asn) rs778269576 0.00001
NM_015050.3(CMTR1):c.650C>G (p.Ala217Gly) rs761221179 0.00001
NM_015050.3(CMTR1):c.652C>T (p.Arg218Trp) rs760920297 0.00001
NM_015050.3(CMTR1):c.104C>T (p.Pro35Leu)
NM_015050.3(CMTR1):c.1429G>A (p.Val477Ile) rs2481677735
NM_015050.3(CMTR1):c.1487T>C (p.Met496Thr)
NM_015050.3(CMTR1):c.1493G>A (p.Arg498Gln) rs1761433836
NM_015050.3(CMTR1):c.1535C>A (p.Ala512Glu) rs763918686
NM_015050.3(CMTR1):c.1618G>A (p.Gly540Arg)
NM_015050.3(CMTR1):c.172G>A (p.Glu58Lys)
NM_015050.3(CMTR1):c.1796A>G (p.Glu599Gly)
NM_015050.3(CMTR1):c.1838C>T (p.Thr613Ile)
NM_015050.3(CMTR1):c.1849C>T (p.Arg617Cys)
NM_015050.3(CMTR1):c.1850G>A (p.Arg617His)
NM_015050.3(CMTR1):c.2071T>G (p.Ser691Ala) rs1264940723
NM_015050.3(CMTR1):c.2213G>A (p.Arg738His) rs1422010627
NM_015050.3(CMTR1):c.2420T>C (p.Ile807Thr) rs1761823164
NM_015050.3(CMTR1):c.2423G>A (p.Arg808His)
NM_015050.3(CMTR1):c.247C>T (p.Arg83Cys)
NM_015050.3(CMTR1):c.29C>T (p.Thr10Ile)
NM_015050.3(CMTR1):c.371G>T (p.Gly124Val) rs2481645692
NM_015050.3(CMTR1):c.39C>G (p.Ile13Met)
NM_015050.3(CMTR1):c.73C>G (p.Leu25Val)
NM_015050.3(CMTR1):c.753C>G (p.Phe251Leu) rs780906984
NM_015050.3(CMTR1):c.989T>A (p.Ile330Asn)

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