ClinVar Miner

List of variants in gene SGCD reported by Ambry Genetics

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Total variants: 62
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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.507G>A (p.Ala169=) rs10071079 0.00680
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.817C>T (p.Leu273=) rs375029639 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 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.792C>T (p.Cys264=) rs367616773 0.00006
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 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.783C>T (p.Phe261=) rs768741617 0.00003
NM_000337.6(SGCD):c.798C>T (p.Cys266=) rs371850230 0.00003
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe) rs781628137 0.00002
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln) rs1488623227 0.00002
NM_000337.6(SGCD):c.153C>T (p.Ala51=) rs1021837057 0.00001
NM_000337.6(SGCD):c.19T>C (p.Tyr7His) rs1561633494 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys) rs748107425 0.00001
NM_000337.6(SGCD):c.354G>T (p.Gln118His) rs770930747 0.00001
NM_000337.6(SGCD):c.421G>T (p.Val141Leu) rs1382070084 0.00001
NM_000337.6(SGCD):c.447C>G (p.Leu149=) rs1257378159 0.00001
NM_000337.6(SGCD):c.577T>C (p.Leu193=) rs776813977 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr) rs757994622
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.105G>T (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.159C>T (p.Thr53=)
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
NM_000337.6(SGCD):c.229C>A (p.Leu77Ile)
NM_000337.6(SGCD):c.232A>C (p.Lys78Gln)
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.274A>G (p.Lys92Glu)
NM_000337.6(SGCD):c.314A>C (p.Lys105Thr)
NM_000337.6(SGCD):c.31C>G (p.Arg11Gly)
NM_000337.6(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.6(SGCD):c.363G>T (p.Val121=) rs1327634775
NM_000337.6(SGCD):c.364C>T (p.Leu122=)
NM_000337.6(SGCD):c.375T>C (p.Leu125=)
NM_000337.6(SGCD):c.437G>A (p.Gly146Glu)
NM_000337.6(SGCD):c.506C>A (p.Ala169Glu)
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.51T>C (p.Ser17=)
NM_000337.6(SGCD):c.527A>C (p.Lys176Thr)
NM_000337.6(SGCD):c.534A>G (p.Ile178Met) rs1474496504
NM_000337.6(SGCD):c.559C>A (p.Pro187Thr)
NM_000337.6(SGCD):c.615A>G (p.Pro205=)
NM_000337.6(SGCD):c.705G>A (p.Lys235=)
NM_000337.6(SGCD):c.708A>G (p.Leu236=) rs761623268
NM_000337.6(SGCD):c.753C>T (p.Tyr251=)
NM_000337.6(SGCD):c.79A>T (p.Ile27Phe)
NM_000337.6(SGCD):c.809G>A (p.Arg270Lys)
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser) rs753240054

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