ClinVar Miner

Variants in gene MAN2B1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136

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