ClinVar Miner

List of variants in gene MAN2B1 reported as likely benign for alpha-mannosidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.4(MAN2B1):c.2355+33C>T rs374660827
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536

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