ClinVar Miner

List of variants studied for Methylmalonic aciduria and homocystinuria type cblF by Invitae

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Total variants: 43
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HGVS dbSNP
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055
NM_018368.4(LMBRD1):c.1189-4C>T
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.247-8T>A
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.405+8T>C rs375415974
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
NM_018368.4(LMBRD1):c.562+18T>A rs183663902
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
NM_018368.4(LMBRD1):c.980+11T>C rs114726590
NM_018368.4(LMBRD1):c.981-10dup rs202207965

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