ClinVar Miner

List of variants in gene MAN2B1 reported as likely pathogenic by Invitae

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Total variants: 11
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HGVS dbSNP
NC_000019.9:g.(?_12758358_12759516del
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1109+1G>C
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.2268-2A>T
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159

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