List of variants in gene SLC46A1 reported as pathogenic for not provided

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)	rs281875208	0.00004
NM_080669.6(SLC46A1):c.194del (p.Gly65fs)	rs80338769
NM_080669.6(SLC46A1):c.194dup (p.Cys66fs)	rs80338769
NM_080669.6(SLC46A1):c.444_445insCTGCTGCTCCAGGCCCTAGTGTCCGTTTTTGTGGTGCAGCTGCAGCTCCACGTCGGCTACTTCGTGC (p.Ile149fs)	rs2142467231
NM_080669.6(SLC46A1):c.559_589del (p.Ile188fs)	rs869040219
NM_080669.6(SLC46A1):c.672_673del (p.Tyr225fs)
NM_080669.6(SLC46A1):c.792_802dup (p.Ala268delinsGlyAsnIleTer)
NM_080669.6(SLC46A1):c.824del (p.Phe275fs)	rs2142465494
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)	rs1597834560

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