List of variants in gene combination LOC130063650, MAN2B1 reported as likely benign for Deficiency of alpha-mannosidase

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)	rs747538432	0.00004
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)	rs1337864540	0.00001
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=)	rs1428387159	0.00001
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=)	rs537304777	0.00001
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=)	rs747792561	0.00001
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)	rs754783943	0.00001
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=)	rs1178249579	0.00001
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=)	rs1253976874	0.00001
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=)	rs1228433382	0.00001
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)	rs1337864540
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=)	rs2024256322
NM_000528.4(MAN2B1):c.18G>C (p.Arg6=)	rs1439136027
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=)	rs2145294761
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=)	rs1428387159
NM_000528.4(MAN2B1):c.30C>G (p.Val10=)	rs2145294698
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=)	rs1599361566
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=)	rs537304777
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)	rs2512520349
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=)	rs2024254219
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=)	rs754783943
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)	rs1178249579
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)	rs1407475487
NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)	rs2512520184

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