List of variants in gene combination LOC129391064, MAN2B1 reported as likely pathogenic for Deficiency of alpha-mannosidase

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)	rs864621984
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)	rs2512501621
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)	rs2023996617
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)	rs2512501525
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)	rs1555708126
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	rs1599350640
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)	rs2023994563
NM_000528.4(MAN2B1):c.1419+1G>A	rs2023994157
NM_000528.4(MAN2B1):c.1419+1G>T	rs2023994157
NM_000528.4(MAN2B1):c.1419+2T>C
NM_000528.4(MAN2B1):c.1419+2_1419+15del	rs2145256406

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