ClinVar Miner

List of variants in gene MAN2B1 reported by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter) rs2023979174
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter) rs755508725
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter) rs2023939487
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter) rs2023853280
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter) rs2023852354
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter) rs2023851530
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter) rs2023809731
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter) rs2023809176
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter) rs1329771201
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) rs774034389
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)

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