ClinVar Miner

List of variants reported as uncertain significance for Deficiency of alpha-mannosidase by Natera, Inc.

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00075
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00020
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776 0.00016
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly) rs191035238 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898 0.00009
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00008
NM_000528.4(MAN2B1):c.1645-3G>A rs748206062 0.00004
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe) rs367852398 0.00004
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys) rs764543590 0.00003
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702 0.00003
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162 0.00003
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser) rs1466468362 0.00003
NM_000528.4(MAN2B1):c.1109+10G>A rs779635675 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824 0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg) rs760097655 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu) rs1170799731 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=) rs1318861970 0.00001
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=) rs1175779934 0.00001
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His) rs1408334891 0.00001
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile) rs1471471874 0.00001
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp) rs2023965888
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn) rs769653813
NM_000528.4(MAN2B1):c.2046+6G>T rs748175413
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr) rs2023810273
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg) rs144244650
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg) rs2023711115
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala) rs1365532315
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu) rs766559062
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688

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