ClinVar Miner

List of variants reported as uncertain significance by Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001163278.2(TENM1):c.3273G>T (p.Gln1091His) rs151041633 0.00006
NM_001297732.2(COX18):c.908G>A (p.Arg303His) rs746878533 0.00004
NM_017640.6(CARMIL1):c.3245G>A (p.Arg1082Gln) rs527331116 0.00004
NM_007109.3(TCF19):c.482G>A (p.Arg161Gln) rs779159917 0.00002
NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met) rs745569662 0.00001
NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=) rs1238341806 0.00001
NM_002979.5(SCP2):c.686A>G (p.Asp229Gly) rs762454467 0.00001
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000787.4(DBH):c.1486C>T (p.Pro496Ser) rs2131294957
NM_001001548.3(CD36):c.1187C>G (p.Ser396Ter)
NM_001288772.2(PIK3C2G):c.3480+1G>T
NM_004618.5(TOP3A):c.1651G>A (p.Val551Met) rs1047455569
NM_005447.4(RASSF9):c.893_894del (p.Ile298fs)
NM_020353.3(PLSCR4):c.301C>T (p.Pro101Ser) rs2108241382
NM_020718.4(USP31):c.2533A>G (p.Ser845Gly) rs1236242968
NM_022437.3(ABCG8):c.562G>C (p.Val188Leu)
NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)

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