ClinVar Miner

List of variants in gene SGCD reported as uncertain significance for not specified

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000337.6(SGCD):c.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NC_000005.9:g.(?_155753766)_(155771688_155935610)dup
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.839C>A (p.Ser280Tyr) rs397516337

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