ClinVar Miner

List of variants studied for Thiel-Behnke corneal dystrophy

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) rs369672739 0.00002
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser) rs765026368 0.00001
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) rs1751703312
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034

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