List of variants reported as likely pathogenic by Institute of Experimental Endocrinology, Slovak Academy of Sciences

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.679_681del (p.Lys227del)	rs1431844269	0.00003
NM_173560.4(RFX6):c.1154G>A (p.Arg385Gln)	rs1445567359	0.00001
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs)	rs2135847592
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly)	rs2135841238

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