List of variants in gene B3GALT6 reported as likely benign for Ehlers-Danlos syndrome, spondylodysplastic type, 2

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: 103

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	rs190796582	0.15534
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)	rs568623476	0.00202
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	rs892958562	0.00109
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	rs200646244	0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	rs201547600	0.00061
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=)	rs562616873	0.00036
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)	rs368078922	0.00029
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=)	rs370430307	0.00012
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=)	rs532162467	0.00012
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=)	rs397514722	0.00010
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=)	rs764859016	0.00009
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=)	rs759484127	0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)	rs370328225	0.00007
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=)	rs779285702	0.00006
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=)	rs766907387	0.00005
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=)	rs928368471	0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=)	rs547484259	0.00004
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)	rs1204837935	0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=)	rs963500907	0.00003
NM_080605.4(B3GALT6):c.576C>T (p.Val192=)	rs762952410	0.00003
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)	rs933332160	0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=)	rs1200418637	0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=)	rs981250392	0.00002
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=)	rs1638537998	0.00001
NM_080605.4(B3GALT6):c.189G>A (p.Val63=)	rs1471843111	0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=)	rs1305896128	0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=)	rs1457990186	0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=)	rs767598361	0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=)	rs750669776	0.00001
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=)	rs1402832925	0.00001
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=)	rs1489962435	0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=)	rs1057524131	0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=)	rs1256336773	0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=)	rs1300221753	0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)	rs764901184	0.00001
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=)	rs766274999	0.00001
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=)	rs764915085	0.00001
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)	rs1031675737	0.00001
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=)	rs1441211766	0.00001
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)	rs914725170	0.00001
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=)	rs1416591096
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=)	rs868472493
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)	rs1179179554
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=)	rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=)	rs1557526065
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=)	rs1224612114
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=)	rs1570498417
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=)	rs1255662040
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=)	rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)	rs1305970798
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=)	rs1570497749
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
NM_080605.4(B3GALT6):c.576C>G (p.Val192=)	rs762952410
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=)	rs532162467
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg)	rs551984021
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=)	rs562616873
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
NM_080605.4(B3GALT6):c.762C>A (p.Val254=)	rs2100994568
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=)	rs1334196295
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=)	rs1471341896
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=)	rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)

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