ClinVar Miner

List of variants in gene LOC130063648, MAN2B1 studied for Deficiency of alpha-mannosidase

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=) rs149897798 0.00033
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys) rs139366493 0.00014
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=) rs773210333 0.00001
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met) rs929568109 0.00001
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=) rs1434923922
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=) rs2145221975
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=) rs2145221961
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=) rs2023721432
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)
NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=) rs1342775181
NM_000528.4(MAN2B1):c.2700G>T (p.Val900=) rs1274103813
NM_000528.4(MAN2B1):c.2703C>T (p.His901=)
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273
NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)
NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=) rs773210333
NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=) rs2023720244
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter) rs368224056
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp) rs2023720009
NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter) rs139366493
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990

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