ClinVar Miner

List of variants in gene SGCD reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
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.123C>G (p.Leu41=) rs200670993 0.00015
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.699+76C>T rs369806019 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.699+77G>A rs200686844 0.00009
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.792C>T (p.Cys264=) rs367616773 0.00006
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
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.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.575+6C>T rs886044432 0.00002
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys) rs748107425 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.54G>A (p.Val18=) rs756970013 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 0.00001
NM_000337.6(SGCD):c.699+49C>G rs752646426 0.00001
NM_000337.6(SGCD):c.734G>C (p.Arg245Thr) rs886042870 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.22A>G (p.Thr8Ala) rs1554094932
NM_000337.6(SGCD):c.295-10C>T rs1334538970
NM_000337.6(SGCD):c.3+7A>G rs1561622931
NM_000337.6(SGCD):c.306G>A (p.Leu102=) rs1554119164
NM_000337.6(SGCD):c.333A>T (p.Thr111=) rs886042290
NM_000337.6(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu) rs956992133
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile) rs886044160
NM_000337.6(SGCD):c.443T>A (p.Leu148Ter) rs886043460
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr) rs886043902
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.8C>T (p.Pro3Leu) rs1554094928

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