List of variants in gene MAF reported as pathogenic by Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	rs727502766
NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	rs727502767
NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	rs727502769
NM_005360.5(MAF):c.176C>A (p.Pro59His)	rs727502770
NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	rs727502770
NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	rs727502771
NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	rs727502768

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