ClinVar Miner

List of variants in gene CLP1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006831.3(CLP1):c.898C>T (p.Arg300Cys) rs150146614 0.00027
NM_006831.3(CLP1):c.284A>G (p.Asn95Ser) rs200951285 0.00026
NM_006831.3(CLP1):c.178G>T (p.Gly60Cys) rs200305079 0.00011
NM_006831.3(CLP1):c.48A>C (p.Glu16Asp) rs139128549 0.00011
NM_006831.3(CLP1):c.1160T>C (p.Ile387Thr) rs1425359789 0.00004
NM_006831.3(CLP1):c.347G>A (p.Arg116Gln) rs774552487 0.00002
NM_006831.3(CLP1):c.427C>T (p.Arg143Cys) rs957840738 0.00001
NM_006831.3(CLP1):c.587A>T (p.Asn196Ile) rs1171588592 0.00001
NM_006831.3(CLP1):c.863G>A (p.Arg288His) rs771813411 0.00001
NM_006831.3(CLP1):c.992C>T (p.Ala331Val) rs1363251870 0.00001
NM_006831.3(CLP1):c.1133T>C (p.Leu378Pro)
NM_006831.3(CLP1):c.1185G>T (p.Glu395Asp)
NM_006831.3(CLP1):c.1201G>C (p.Val401Leu) rs780323215
NM_006831.3(CLP1):c.286A>G (p.Thr96Ala)
NM_006831.3(CLP1):c.304C>G (p.Gln102Glu)
NM_006831.3(CLP1):c.34A>G (p.Thr12Ala)
NM_006831.3(CLP1):c.386C>T (p.Thr129Ile) rs760751572
NM_006831.3(CLP1):c.397C>G (p.Leu133Val) rs1945857907
NM_006831.3(CLP1):c.731A>G (p.His244Arg)
NM_006831.3(CLP1):c.751G>A (p.Val251Met) rs1555002798
NM_006831.3(CLP1):c.769C>G (p.Leu257Val) rs2495519874
NM_006831.3(CLP1):c.827C>T (p.Thr276Ile) rs2495520004
NM_006831.3(CLP1):c.877C>T (p.Arg293Trp)
NM_006831.3(CLP1):c.886T>A (p.Cys296Ser)
NM_006831.3(CLP1):c.904C>T (p.Arg302Cys)
NM_006831.3(CLP1):c.917A>G (p.Tyr306Cys)
NM_006831.3(CLP1):c.953A>G (p.Asn318Ser)

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