ClinVar Miner

List of variants in gene LOC130063648, MAN2B1 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=) rs149897798 0.00029
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys) rs139366493 0.00014
NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=) rs1342775181 0.00001
NM_000528.4(MAN2B1):c.2703C>T (p.His901=) rs2023720891 0.00001
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273 0.00001
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=) rs773210333 0.00001
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile) rs1275680526 0.00001
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met) rs929568109 0.00001
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His) rs1196853128
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=) rs1434923922
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly) rs755681471
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) rs1195402115
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=) rs149897798
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs) rs2512484944
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=) rs2023721432
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) rs767323371
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.2704C>T (p.Leu902=) rs1301597273
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=) rs768907989
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=) rs768907989
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter) rs139366493
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met) rs2512484930
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990

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