List of variants in gene B4GALT7 reported as likely benign for Ehlers-Danlos syndrome progeroid type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 123

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)	rs142476892	0.00150
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)	rs142951817	0.00140
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=)	rs200124872	0.00047
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=)	rs115756833	0.00028
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=)	rs201616836	0.00023
NM_007255.3(B4GALT7):c.222C>G (p.Ala74=)	rs200218920	0.00022
NM_007255.3(B4GALT7):c.498G>A (p.Leu166=)	rs140848441	0.00016
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu)	rs200732558	0.00016
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)	rs756942664	0.00015
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=)	rs149805079	0.00012
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=)	rs372857848	0.00009
NM_007255.3(B4GALT7):c.828+10G>A	rs766078359	0.00009
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=)	rs557374282	0.00009
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=)	rs775207945	0.00007
NM_007255.3(B4GALT7):c.561C>T (p.Ser187=)	rs767559423	0.00007
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=)	rs150487733	0.00006
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)	rs147617631	0.00006
NM_007255.3(B4GALT7):c.723+13G>A	rs775276570	0.00006
NM_007255.3(B4GALT7):c.600C>T (p.Val200=)	rs148615542	0.00005
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=)	rs774814337	0.00005
NM_007255.3(B4GALT7):c.723+7T>C	rs376100460	0.00005
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=)	rs780427259	0.00004
NM_007255.3(B4GALT7):c.51-13G>A	rs1405020049	0.00004
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=)	rs374198956	0.00004
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)	rs201489289	0.00004
NM_007255.3(B4GALT7):c.273C>T (p.Gly91=)	rs375667092	0.00003
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=)	rs373068387	0.00003
NM_007255.3(B4GALT7):c.829-14C>G	rs199973542	0.00003
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=)	rs748963969	0.00002
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=)	rs775059052	0.00002
NM_007255.3(B4GALT7):c.100C>T (p.Leu34=)	rs753921062	0.00001
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=)	rs748595740	0.00001
NM_007255.3(B4GALT7):c.51-12C>T	rs374904923	0.00001
NM_007255.3(B4GALT7):c.51-15C>A	rs750251768	0.00001
NM_007255.3(B4GALT7):c.702C>T (p.Arg234=)	rs1768086053	0.00001
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=)	rs367964168	0.00001
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=)	rs570926723	0.00001
NM_007255.3(B4GALT7):c.879T>C (p.His293=)	rs755949684	0.00001
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)
NM_007255.3(B4GALT7):c.171G>A (p.Val57=)
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=)	rs1767919814
NM_007255.3(B4GALT7):c.240C>T (p.Pro80=)	rs377379133
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
NM_007255.3(B4GALT7):c.324C>T (p.Leu108=)	rs1767927262
NM_007255.3(B4GALT7):c.351C>T (p.Arg117=)
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
NM_007255.3(B4GALT7):c.408C>T (p.His136=)
NM_007255.3(B4GALT7):c.413+12C>T
NM_007255.3(B4GALT7):c.413+13C>T
NM_007255.3(B4GALT7):c.413+14C>T
NM_007255.3(B4GALT7):c.413+15C>T	rs757790046
NM_007255.3(B4GALT7):c.413+16A>C	rs1767932065
NM_007255.3(B4GALT7):c.413+16A>G
NM_007255.3(B4GALT7):c.413+17C>G
NM_007255.3(B4GALT7):c.413+17C>T
NM_007255.3(B4GALT7):c.413+19C>T
NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)
NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)
NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)
NM_007255.3(B4GALT7):c.486C>T (p.His162=)
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
NM_007255.3(B4GALT7):c.51-11G>A	rs763444666
NM_007255.3(B4GALT7):c.51-19T>C
NM_007255.3(B4GALT7):c.51-20C>G
NM_007255.3(B4GALT7):c.51-4C>T
NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)
NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)
NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)
NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)
NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)
NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)
NM_007255.3(B4GALT7):c.585C>T (p.His195=)
NM_007255.3(B4GALT7):c.597T>C (p.Tyr199=)	rs560198890
NM_007255.3(B4GALT7):c.633C>T (p.Tyr211=)
NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)
NM_007255.3(B4GALT7):c.639+10G>A	rs1023872849
NM_007255.3(B4GALT7):c.639+13C>A	rs746538176
NM_007255.3(B4GALT7):c.639+9C>A
NM_007255.3(B4GALT7):c.639+9C>T
NM_007255.3(B4GALT7):c.640-14T>G
NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)
NM_007255.3(B4GALT7):c.654C>T (p.Ser218=)	rs780413704
NM_007255.3(B4GALT7):c.678C>T (p.Arg226=)
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)
NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)
NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)
NM_007255.3(B4GALT7):c.723+12C>T
NM_007255.3(B4GALT7):c.723+13G>T	rs775276570
NM_007255.3(B4GALT7):c.723+15del	rs773263037
NM_007255.3(B4GALT7):c.723+18C>T
NM_007255.3(B4GALT7):c.724-20A>C
NM_007255.3(B4GALT7):c.724-21_724-19del	rs2127514102
NM_007255.3(B4GALT7):c.724-6C>T
NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)
NM_007255.3(B4GALT7):c.750T>C (p.Thr250=)	rs772835831
NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=)	rs757401980
NM_007255.3(B4GALT7):c.828+19A>G
NM_007255.3(B4GALT7):c.828+7G>C
NM_007255.3(B4GALT7):c.829-16C>A
NM_007255.3(B4GALT7):c.829-16C>T
NM_007255.3(B4GALT7):c.829-6C>T	rs377212592
NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)
NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)
NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)
NM_007255.3(B4GALT7):c.900G>A (p.Leu300=)	rs1421610470
NM_007255.3(B4GALT7):c.915C>A (p.Ala305=)
NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)
NM_007255.3(B4GALT7):c.918C>T (p.Pro306=)	rs2127514617
NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)
NM_007255.3(B4GALT7):c.927C>T (p.Val309=)
NM_007255.3(B4GALT7):c.945C>T (p.Asp315=)	rs2127514653
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=)	rs138973879
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)

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