ClinVar Miner

List of variants reported by Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_181659.3(NCOA3):c.2810C>G (p.Ser937Cys) rs142951578 0.00037
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser) rs143626910 0.00009
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.4960G>A (p.Gly1654Ser) rs1005694756 0.00001
NM_194248.3(OTOF):c.4981G>A (p.Glu1661Lys) rs894098325 0.00001
GRCh37/hg19 2p14-13.3(chr2:68475209-68676657)x3
NM_000141.5(FGFR2):c.2053G>T (p.Asp685Tyr) rs2133823028
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) rs111033212
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_004086.3(COCH):c.1624T>C (p.Cys542Arg) rs1213152015
NM_004700.4(KCNQ4):c.701A>T (p.His234Leu) rs1064796365
NM_005422.4(TECTA):c.5383+5_5383+8del rs2135128814
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788
NM_194248.3(OTOF):c.1392+1del rs2148060407
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu) rs201329629
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs) rs397515596
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.4541A>G (p.Asp1514Gly) rs2148028248
NM_194248.3(OTOF):c.4961-1G>A rs2148024902
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter) rs1487432642
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609

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