ClinVar Miner

List of variants in gene MAN2B1 studied for Inborn genetic diseases

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Total variants: 82
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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.2966A>G (p.Asn989Ser) rs753397171 0.00015
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 0.00013
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp) rs150533763 0.00012
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.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00007
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser) rs779966472 0.00005
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly) rs373101689 0.00003
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys) rs764543590 0.00003
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu) rs145163643 0.00003
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met) rs140502524 0.00003
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly) rs767313931 0.00003
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His) rs544475124 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=) rs770976179 0.00002
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn) rs142210875 0.00002
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu) rs1270784757 0.00002
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln) rs745928175 0.00002
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg) rs1230523125 0.00002
NM_000528.4(MAN2B1):c.1154A>G (p.His385Arg) rs751774033 0.00001
NM_000528.4(MAN2B1):c.1342G>T (p.Ala448Ser) rs2145257027 0.00001
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu) rs1330706618 0.00001
NM_000528.4(MAN2B1):c.1616A>C (p.Asp539Ala) rs912284640 0.00001
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala) rs1325770668 0.00001
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys) rs912714124 0.00001
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr) rs540409826 0.00001
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala) rs746776449 0.00001
NM_000528.4(MAN2B1):c.2279G>A (p.Arg760Gln) rs771163474 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.274A>G (p.Ile92Val) rs751849414 0.00001
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683 0.00001
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr) rs1294764488 0.00001
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His) rs202245970 0.00001
NM_000528.4(MAN2B1):c.538G>A (p.Glu180Lys) rs2024189870 0.00001
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys) rs776241681 0.00001
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688 0.00001
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val) rs199690827 0.00001
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His) rs766861806 0.00001
NM_000528.4(MAN2B1):c.976A>G (p.Asn326Asp) rs773274527 0.00001
NM_000528.4(MAN2B1):c.1043G>A (p.Ser348Asn) rs2512504245
NM_000528.4(MAN2B1):c.1101C>G (p.Asn367Lys)
NM_000528.4(MAN2B1):c.1231-6C>T rs2512503266
NM_000528.4(MAN2B1):c.1283A>G (p.Tyr428Cys)
NM_000528.4(MAN2B1):c.1311T>A (p.Asn437Lys)
NM_000528.4(MAN2B1):c.1436C>T (p.Ala479Val) rs754724305
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys) rs139255957
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met) rs1211189249
NM_000528.4(MAN2B1):c.1642G>A (p.Asp548Asn)
NM_000528.4(MAN2B1):c.1676C>T (p.Ala559Val)
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser) rs377104016
NM_000528.4(MAN2B1):c.1777C>T (p.Pro593Ser)
NM_000528.4(MAN2B1):c.1957A>T (p.Ser653Cys)
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His) rs140449678
NM_000528.4(MAN2B1):c.2182G>A (p.Glu728Lys) rs755197711
NM_000528.4(MAN2B1):c.2195G>A (p.Arg732His)
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2255T>A (p.Ile752Asn)
NM_000528.4(MAN2B1):c.2311G>A (p.Val771Met) rs140843669
NM_000528.4(MAN2B1):c.2422T>C (p.Ser808Pro)
NM_000528.4(MAN2B1):c.2459A>T (p.Asp820Val) rs2512486810
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro) rs140281123
NM_000528.4(MAN2B1):c.2512G>A (p.Val838Met) rs1030405860
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg) rs753811983
NM_000528.4(MAN2B1):c.2636A>G (p.Tyr879Cys) rs2512486350
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala) rs746571094
NM_000528.4(MAN2B1):c.364G>A (p.Ala122Thr)
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val) rs759257910
NM_000528.4(MAN2B1):c.568C>T (p.Arg190Cys)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.604C>T (p.Arg202Trp) rs1024510764
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His) rs777610043
NM_000528.4(MAN2B1):c.643G>A (p.Gly215Ser) rs1454706230
NM_000528.4(MAN2B1):c.706G>C (p.Glu236Gln)
NM_000528.4(MAN2B1):c.779G>A (p.Gly260Asp) rs976940825
NM_000528.4(MAN2B1):c.829C>A (p.Pro277Thr)
NM_000528.4(MAN2B1):c.832C>A (p.Leu278Met)

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