ClinVar Miner

List of variants reported as benign for alpha-mannosidosis by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00024
NM_000528.4(MAN2B1):c.1110-15C>T rs202085731 0.00019
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1528-11del rs2145253449
NM_000528.4(MAN2B1):c.2267+8del
NM_000528.4(MAN2B1):c.2355+20C>T
NM_000528.4(MAN2B1):c.262+17del
NM_000528.4(MAN2B1):c.2665-17del
NM_000528.4(MAN2B1):c.2923+19dup
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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