ClinVar Miner

List of variants in gene MAF studied for Inborn genetic diseases

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01073
NM_005360.5(MAF):c.649G>A (p.Gly217Ser) rs977933498 0.00065
NM_005360.5(MAF):c.547C>A (p.His183Asn) rs1262562851 0.00013
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005360.5(MAF):c.487G>A (p.Val163Met) rs1913845255 0.00001
NM_005360.5(MAF):c.593G>A (p.Gly198Asp) rs1913830222 0.00001
NM_005360.5(MAF):c.1007G>C (p.Arg336Thr)
NM_005360.5(MAF):c.1138T>A (p.Leu380Met) rs1239219565
NM_005360.5(MAF):c.1150G>T (p.Val384Leu)
NM_005360.5(MAF):c.164T>C (p.Leu55Pro)
NM_005360.5(MAF):c.170C>T (p.Ser57Phe) rs1555530080
NM_005360.5(MAF):c.334G>T (p.Asp112Tyr) rs533140349
NM_005360.5(MAF):c.454G>A (p.Gly152Ser)
NM_005360.5(MAF):c.478G>A (p.Ala160Thr) rs1913846847
NM_005360.5(MAF):c.578A>C (p.His193Pro) rs2143808493
NM_005360.5(MAF):c.586A>C (p.Thr196Pro) rs2143808215
NM_005360.5(MAF):c.604G>A (p.Ala202Thr) rs1206789868
NM_005360.5(MAF):c.619G>T (p.Ala207Ser) rs2143807424
NM_005360.5(MAF):c.640G>A (p.Gly214Arg)
NM_005360.5(MAF):c.641G>T (p.Gly214Val)
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup) rs887468453
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.760G>C (p.Gly254Arg) rs764719107
NM_005360.5(MAF):c.887T>C (p.Leu296Pro) rs1913784440
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557

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