ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (1198):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys) rs754382673 0.00001
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val) rs1162207835
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) rs2135078204
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln) rs761347066
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp) rs2151848449
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NR_003051.4(RMRP):n.223G>T

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