List of variants in gene SGCA reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.37+66C>T	rs9911548	0.99075
NM_000023.4(SGCA):c.983+240A>T	rs2696294	0.95815
NM_000023.4(SGCA):c.312+83C>T	rs2696297	0.83281
NM_000023.4(SGCA):c.585-222C>T	rs2696296	0.61363
NM_000023.4(SGCA):c.37+298G>A	rs2412299	0.53793
NM_000023.4(SGCA):c.747+212C>T	rs2696295	0.53440
NM_000023.4(SGCA):c.584+229G>A	rs16948744	0.40385
NM_000023.4(SGCA):c.385+167A>G	rs11868160	0.15973
NM_000023.4(SGCA):c.313-39C>A	rs59944537	0.14707
NM_000023.4(SGCA):c.933C>T (p.Val311=)	rs1801191	0.08920
NM_000023.4(SGCA):c.37+23G>A	rs79410682	0.04607
NM_000023.4(SGCA):c.386-166G>A	rs11870423	0.03655
NM_000023.4(SGCA):c.37+290G>A	rs73987434	0.01040
NM_000023.4(SGCA):c.528C>T (p.Thr176=)	rs1801190	0.00868
NM_000023.4(SGCA):c.38-96C>T	rs148431038	0.00854
NM_000023.4(SGCA):c.984-165C>T	rs143663300	0.00760
NM_000023.4(SGCA):c.984-100A>G	rs116638508	0.00743
NC_000017.11:g.50165951C>A	rs75145501	0.00721
NM_000023.4(SGCA):c.983+56C>A	rs147162020	0.00629
NM_000023.4(SGCA):c.*10C>G	rs60300808	0.00593
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)	rs35495899	0.00527
NM_000023.4(SGCA):c.584+162C>T	rs190245746	0.00395
NM_000023.4(SGCA):c.-8G>A	rs149296410	0.00248
NM_000023.4(SGCA):c.158-11G>A	rs140261054	0.00157
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)	rs145697858	0.00087
NM_000023.4(SGCA):c.366G>A (p.Leu122=)	rs147739328	0.00075
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00058
NM_000023.4(SGCA):c.690G>C (p.Leu230=)	rs139454982	0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00042
NM_000023.4(SGCA):c.189C>T (p.His63=)	rs373770886	0.00027
NM_000023.4(SGCA):c.-31T>C	rs199527818	0.00026
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)	rs145252144	0.00017
NM_000023.4(SGCA):c.-23C>T	rs575518404	0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=)	rs143551687	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=)	rs368522117	0.00013
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys)	rs143365858	0.00009
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000023.4(SGCA):c.1155C>T (p.Asp385=)	rs183964744	0.00004
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)	rs749205073	0.00004
NM_000023.4(SGCA):c.312+19A>C	rs527959287	0.00004
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000023.4(SGCA):c.158-4C>A	rs776411719	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.1035G>A (p.Arg345=)	rs374989747	0.00001
NM_000023.4(SGCA):c.147T>C (p.Pro49=)	rs745447270	0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)	rs1373671710	0.00001
NM_000023.4(SGCA):c.33C>T (p.Leu11=)	rs762704751	0.00001
NM_000023.4(SGCA):c.37+3A>G	rs1370709181	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)	rs199810179	0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs)	rs886041387	0.00001
NM_000023.4(SGCA):c.584+16T>C	rs1054945327	0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=)	rs764188161	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.957-11C>G	rs1391089933	0.00001
NM_000023.2(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)	rs1598265282
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)	rs2144494625
NM_000023.4(SGCA):c.38-198C>G	rs12939159
NM_000023.4(SGCA):c.38-337C>A	rs73334777
NM_000023.4(SGCA):c.38-337C>T	rs73334777
NM_000023.4(SGCA):c.38-46G>C	rs142537375
NM_000023.4(SGCA):c.386-16del	rs556088617
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.421C>G (p.Arg141Gly)
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)	rs574376340
NM_000023.4(SGCA):c.584+156G>A	rs56273576
NM_000023.4(SGCA):c.585-1G>C	rs1342189589
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	rs757481230
NM_000023.4(SGCA):c.68C>A (p.Ala23Asp)	rs760528436
NM_000023.4(SGCA):c.747+161AC[17]	rs3138607
NM_000023.4(SGCA):c.747+161AC[18]	rs3138607
NM_000023.4(SGCA):c.747+161AC[19]	rs3138607
NM_000023.4(SGCA):c.747+161AC[20]	rs3138607
NM_000023.4(SGCA):c.747+161AC[21]	rs3138607
NM_000023.4(SGCA):c.747+161AC[22]	rs3138607
NM_000023.4(SGCA):c.819G>A (p.Pro273=)	rs35972733
NM_000023.4(SGCA):c.861G>A (p.Leu287=)	rs1555569293
NM_000023.4(SGCA):c.983+246del	rs113182656

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