List of variants in gene BEST1, FTH1 studied for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002032.3(FTH1):c.410A>G (p.His137Arg)	rs767112958	0.00011
NM_002032.3(FTH1):c.482C>T (p.Ala161Val)	rs11554842	0.00003
NM_002032.3(FTH1):c.374A>G (p.Lys125Arg)	rs753401296	0.00001
NM_002032.3(FTH1):c.169C>A (p.Leu57Ile)
NM_002032.3(FTH1):c.334A>C (p.Asn112His)
NM_002032.3(FTH1):c.355C>T (p.His119Tyr)	rs1237079690
NM_002032.3(FTH1):c.442G>C (p.Glu148Gln)	rs1167278194

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