ClinVar Miner

List of variants in gene MAN2B1 reported as uncertain significance for not specified

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876 0.00003
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162 0.00003
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu) rs376856949 0.00002
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00001
NC_000019.9:g.(12761037_12762966)_(12763275_12766507)del
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
NM_000528.4(MAN2B1):c.2887del (p.Glu963fs) rs2145220124
NM_000528.4(MAN2B1):c.2977dup (p.Glu993fs)

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