ClinVar Miner

List of variants studied for Glycosylphosphatidylinositol biosynthesis defect 16 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00031
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00004

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