ClinVar Miner

List of variants in gene SGCD reported as uncertain significance by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000337.6(SGCD):c.42G>T (p.Met14Ile) rs1281906026 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 0.00001
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr) rs772799792 0.00001
NM_000337.6(SGCD):c.803A>G (p.Asn268Ser) rs762681488 0.00001
NM_000337.6(SGCD):c.85G>A (p.Gly29Ser) rs773399590 0.00001
NM_000337.6(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.6(SGCD):c.192+4A>G rs750150347
NM_000337.6(SGCD):c.242_244del (p.Gly81del) rs794729165
NM_000337.6(SGCD):c.314A>G (p.Lys105Arg) rs1760622847
NM_000337.6(SGCD):c.333A>C (p.Thr111=) rs886042290
NM_000337.6(SGCD):c.337A>C (p.Asn113His) rs1760624404
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) rs1757387093
NM_000337.6(SGCD):c.823C>T (p.Gln275Ter)
NM_000337.6(SGCD):c.89G>C (p.Trp30Ser) rs121909296

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