ClinVar Miner

List of variants in gene LRSAM1 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 31
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HGVS dbSNP
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp) rs0
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val) rs0
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg) rs0
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) rs0
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp) rs0
NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe) rs0
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2046+1G>T rs1588143215
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_138361.5(LRSAM1):c.253-9C>A rs0
NM_138361.5(LRSAM1):c.362G>A (p.Arg121His) rs0
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.86G>C (p.Gly29Ala) rs142846298
NM_138361.5(LRSAM1):c.904-4del rs757987823
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met) rs0

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