ClinVar Miner

List of variants in gene MAN2B1 reported as uncertain significance for not provided

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00014
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121 0.00014
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile) rs144119421 0.00011
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys) rs185112259 0.00010
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile) rs181476648 0.00005
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643 0.00003
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824 0.00001
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 0.00001
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met) rs778300782 0.00001
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
NM_000528.4(MAN2B1):c.1030G>A (p.Ala344Thr) rs2145262302
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1109+3A>G rs794727905
NM_000528.4(MAN2B1):c.1141G>A (p.Ala381Thr) rs2024023250
NM_000528.4(MAN2B1):c.1223T>A (p.Phe408Tyr) rs398123452
NM_000528.4(MAN2B1):c.1224C>A (p.Phe408Leu) rs398123453
NM_000528.4(MAN2B1):c.1229A>T (p.Gln410Leu)
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
NM_000528.4(MAN2B1):c.2311G>A (p.Val771Met) rs140843669
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser) rs1599340883
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg) rs752079394
NM_000528.4(MAN2B1):c.2936A>G (p.His979Arg)
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.2968A>G (p.Ile990Val) rs1555705869
NM_000528.4(MAN2B1):c.355G>C (p.Val119Leu) rs201140883
NM_000528.4(MAN2B1):c.368TCT[1] (p.Phe124del) rs398123458
NM_000528.4(MAN2B1):c.444G>A (p.Leu148=) rs794727626

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