ClinVar Miner

List of variants reported as uncertain significance for Deficiency of alpha-mannosidase by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00008
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979

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