ClinVar Miner

List of variants studied for Lichtenstein-Knorr syndrome

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=) rs4418629 0.97243
NM_003047.5(SLC9A1):c.*2A>G rs4266911 0.97068
NM_003047.5(SLC9A1):c.69T>C (p.Val23=) rs34306208 0.31344
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) rs1221107969
NM_003047.5(SLC9A1):c.176A>T (p.Asp59Val)
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) rs2083146343
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
NM_003047.5(SLC9A1):c.862del (p.Ile288fs) rs2083214834
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) rs786204831

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