ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of alpha-mannosidase by Fulgent Genetics, Fulgent Genetics

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00005
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00001
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-6_1110del
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter) rs2512503484
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs) rs2512501525
NM_000528.4(MAN2B1):c.1419+2T>C
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs) rs2512489951
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)
NM_000528.4(MAN2B1):c.2786delinsTCC (p.Arg929fs)
NM_000528.4(MAN2B1):c.2923+2T>A
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159

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