ClinVar Miner

Variants in gene MAN2B1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1384_1385GC[2] (p.Arg463fs)
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568

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