ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_173560.4(RFX6):c.1154G>A (p.Arg385Gln) rs1445567359 0.00001
NM_173560.4(RFX6):c.313T>G (p.Ser105Ala) rs1173080193 0.00001
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs) rs2135847592
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_002778.4(PSAP):c.1268del (p.Leu423fs) rs1564815053
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro) rs1564332930
NM_173560.4(RFX6):c.1316_1319del (p.Ile439fs) rs1562146029
NM_175914.5(HNF4A):c.427-1G>A rs1568731279

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