ClinVar Miner

List of variants in gene SGCD reported by Invitae

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Gene type:
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Total variants: 64
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HGVS dbSNP
NC_000005.9:g.(?_156184572)_(156186421_?)del
NM_000337.5(SGCD):c.101G>A (p.Cys34Tyr)
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.160A>G (p.Ile54Val) rs200671745
NM_000337.5(SGCD):c.175G>T (p.Val59Phe) rs1274415049
NM_000337.5(SGCD):c.191T>C (p.Ile64Thr) rs376780156
NM_000337.5(SGCD):c.194A>G (p.Asp65Gly)
NM_000337.5(SGCD):c.197G>C (p.Gly66Ala)
NM_000337.5(SGCD):c.19T>C (p.Tyr7His) rs1561633494
NM_000337.5(SGCD):c.1A>G (p.Met1Val) rs756367674
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.249T>G (p.Ser83=) rs1348759871
NM_000337.5(SGCD):c.285G>C (p.Gln95His) rs1421460814
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.340A>G (p.Ile114Val)
NM_000337.5(SGCD):c.354G>T (p.Gln118His) rs770930747
NM_000337.5(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.5(SGCD):c.359A>C (p.Lys120Thr) rs1385323214
NM_000337.5(SGCD):c.393C>T (p.Ala131=) rs397517922
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.4-1G>T rs1554094927
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.434C>G (p.Ser145Cys) rs1324593212
NM_000337.5(SGCD):c.437G>T (p.Gly146Val) rs1438925313
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.458A>G (p.Asp153Gly) rs752000538
NM_000337.5(SGCD):c.461A>G (p.Asn154Ser) rs759767804
NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) rs727503423
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.547G>A (p.Val183Ile)
NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) rs769250018
NM_000337.5(SGCD):c.566A>G (p.Lys189Arg) rs538002169
NM_000337.5(SGCD):c.577T>C (p.Leu193=) rs776813977
NM_000337.5(SGCD):c.593G>A (p.Arg198Gln)
NM_000337.5(SGCD):c.659C>T (p.Thr220Ile) rs1471128348
NM_000337.5(SGCD):c.662G>A (p.Cys221Tyr) rs1561899959
NM_000337.5(SGCD):c.699+8del
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.714T>C (p.Ala238=) rs1554137275
NM_000337.5(SGCD):c.744T>G (p.His248Gln) rs1160680799
NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.5(SGCD):c.755C>T (p.Thr252Met) rs199520526
NM_000337.5(SGCD):c.756G>A (p.Thr252=) rs756467431
NM_000337.5(SGCD):c.761C>T (p.Thr254Ile) rs372607729
NM_000337.5(SGCD):c.767C>T (p.Thr256Met) rs578056399
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.793G>A (p.Val265Ile) rs772185467
NM_000337.5(SGCD):c.799G>A (p.Ala267Thr)
NM_000337.5(SGCD):c.817C>T (p.Leu273=) rs375029639
NM_000337.5(SGCD):c.821C>T (p.Ser274Phe)
NM_000337.5(SGCD):c.832G>A (p.Ala278Thr) rs753240054
NM_000337.5(SGCD):c.832G>T (p.Ala278Ser)
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000337.5(SGCD):c.91C>T (p.Arg31Trp)
NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) rs200476861
NM_000337.5(SGCD):c.98G>A (p.Arg33Gln) rs1488623227
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924

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