ClinVar Miner

List of variants reported as uncertain significance for alpha-mannosidosis by Counsyl

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000528.3(MAN2B1):c.1308_1309+2delCAGT rs1555708282
NM_000528.3:c.2484_2485ins6 rs1555706406
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1922_1924TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511

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