ClinVar Miner

List of variants in gene MAN2B1 reported by Ambry Genetics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 0.00014
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
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.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser) rs779966472 0.00005
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643 0.00003
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 0.00001
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr) rs1438173166 0.00001
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val) rs775204651 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.1043G>A (p.Ser348Asn)
NM_000528.4(MAN2B1):c.1154A>G (p.His385Arg)
NM_000528.4(MAN2B1):c.1231-6C>T
NM_000528.4(MAN2B1):c.1342G>T (p.Ala448Ser)
NM_000528.4(MAN2B1):c.1436C>T (p.Ala479Val)
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met) rs1211189249
NM_000528.4(MAN2B1):c.1616A>C (p.Asp539Ala)
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)
NM_000528.4(MAN2B1):c.2182G>A (p.Glu728Lys)
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2279G>A (p.Arg760Gln)
NM_000528.4(MAN2B1):c.2459A>T (p.Asp820Val)
NM_000528.4(MAN2B1):c.2512G>A (p.Val838Met)
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
NM_000528.4(MAN2B1):c.2636A>G (p.Tyr879Cys)
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
NM_000528.4(MAN2B1):c.538G>A (p.Glu180Lys)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.604C>T (p.Arg202Trp)
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
NM_000528.4(MAN2B1):c.643G>A (p.Gly215Ser)
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
NM_000528.4(MAN2B1):c.779G>A (p.Gly260Asp)
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
NM_000528.4(MAN2B1):c.976A>G (p.Asn326Asp)

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