ClinVar Miner

List of variants studied for Glycosylphosphatidylinositol biosynthesis defect 16

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser) rs1063412 0.44041
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile) rs146481462 0.00043
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr) rs61747503 0.00027
NM_153747.2(PIGC):c.812G>A (p.Arg271His) rs370905635 0.00008
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly) rs751068367 0.00005
NM_153747.2(PIGC):c.574C>T (p.Arg192Cys) rs768479943 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) rs786205667 0.00001
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer) rs2526991185
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) rs375570541
NM_153747.2(PIGC):c.223A>G (p.Met75Val) rs2526989672
NM_153747.2(PIGC):c.484A>T (p.Ile162Phe) rs1413366993
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter) rs770671752
NM_153747.2(PIGC):c.881G>T (p.Arg294Met) rs1647325450

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