ClinVar Miner

List of variants in gene MAF reported as uncertain significance by GeneDx

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005360.5(MAF):c.1037A>G (p.Glu346Gly) rs1913768733
NM_005360.5(MAF):c.1079G>C (p.Gly360Ala)
NM_005360.5(MAF):c.1097C>G (p.Pro366Arg)
NM_005360.5(MAF):c.1097del (p.Pro366fs)
NM_005360.5(MAF):c.1169G>A (p.Trp390Ter)
NM_005360.5(MAF):c.163C>G (p.Leu55Val) rs373316975
NM_005360.5(MAF):c.180G>T (p.Met60Ile) rs995203630
NM_005360.5(MAF):c.306C>A (p.Asn102Lys)
NM_005360.5(MAF):c.520C>G (p.Gln174Glu) rs2143809957
NM_005360.5(MAF):c.609_638del (p.Ser205_Gly214del)
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.716_726dup (p.Gly243fs)
NM_005360.5(MAF):c.779G>C (p.Arg260Pro)
NM_005360.5(MAF):c.817G>A (p.Glu273Lys)
NM_005360.5(MAF):c.817G>T (p.Glu273Ter)
NM_005360.5(MAF):c.827G>C (p.Arg276Pro) rs1251371757
NM_005360.5(MAF):c.82A>C (p.Met28Leu)
NM_005360.5(MAF):c.866T>G (p.Leu289Arg)
NM_005360.5(MAF):c.898G>A (p.Gly300Ser) rs2143800672
NM_005360.5(MAF):c.959A>G (p.Lys320Arg) rs2507654121

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