ClinVar Miner

List of variants in gene combination LOC130063648, MAN2B1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (302):
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Gene type:
ClinVar version:
Total variants: 12
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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.2731G>A (p.Glu911Lys) rs139366493 0.00014
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.2680A>G (p.Arg894Gly)
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp) rs2023720009
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990

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