List of variants in gene combination LOC121832793, LTBP3 reported as likely benign for bone disorder

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: 85

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.3262G>A (p.Asp1088Asn)	rs955313410	0.00030
NM_001130144.3(LTBP3):c.3210C>T (p.Pro1070=)	rs377594002	0.00015
NM_001130144.3(LTBP3):c.3245-4G>A	rs753454432	0.00006
NM_001130144.3(LTBP3):c.3009G>A (p.Glu1003=)	rs142872641	0.00005
NM_001130144.3(LTBP3):c.3245-11G>A	rs769317347	0.00005
NM_001130144.3(LTBP3):c.3129G>A (p.Glu1043=)	rs764396872	0.00004
NM_001130144.3(LTBP3):c.3162G>C (p.Thr1054=)	rs1423480398	0.00004
NM_001130144.3(LTBP3):c.2958C>T (p.Tyr986=)	rs746634371	0.00003
NM_001130144.3(LTBP3):c.3081C>T (p.Tyr1027=)	rs745765954	0.00003
NM_001130144.3(LTBP3):c.3096G>A (p.Leu1032=)	rs756994995	0.00003
NM_001130144.3(LTBP3):c.3228G>C (p.Leu1076=)	rs1382770604	0.00003
NM_001130144.3(LTBP3):c.2978-18G>T	rs773382024	0.00002
NM_001130144.3(LTBP3):c.3051C>T (p.Tyr1017=)	rs1856063484	0.00002
NM_001130144.3(LTBP3):c.3106+10G>A	rs1183489279	0.00002
NM_001130144.3(LTBP3):c.3106+17G>A	rs192508371	0.00002
NM_001130144.3(LTBP3):c.3168C>T (p.Gly1056=)	rs773332580	0.00002
NM_001130144.3(LTBP3):c.3198C>T (p.Ala1066=)	rs1409588681	0.00002
NM_001130144.3(LTBP3):c.3240G>A (p.Glu1080=)	rs1045730661	0.00002
NM_001130144.3(LTBP3):c.3245-16C>T	rs928730842	0.00002
NM_001130144.3(LTBP3):c.2946C>T (p.Asn982=)	rs1205260277	0.00001
NM_001130144.3(LTBP3):c.2977+20G>T	rs1262752000	0.00001
NM_001130144.3(LTBP3):c.2978-11T>G	rs1267074429	0.00001
NM_001130144.3(LTBP3):c.2978-17T>G	rs772518709	0.00001
NM_001130144.3(LTBP3):c.2978-9A>G	rs768124665	0.00001
NM_001130144.3(LTBP3):c.3006G>A (p.Ser1002=)	rs928613252	0.00001
NM_001130144.3(LTBP3):c.3030C>T (p.Cys1010=)	rs1421349880	0.00001
NM_001130144.3(LTBP3):c.3106+9C>T	rs777722947	0.00001
NM_001130144.3(LTBP3):c.3107-10C>T	rs1345416109	0.00001
NM_001130144.3(LTBP3):c.3107-6C>T	rs375252188	0.00001
NM_001130144.3(LTBP3):c.3132C>T (p.Ser1044=)	rs763344434	0.00001
NM_001130144.3(LTBP3):c.3165C>G (p.Arg1055=)	rs1202004426	0.00001
NM_001130144.3(LTBP3):c.3183C>T (p.Ala1061=)	rs771961734	0.00001
NM_001130144.3(LTBP3):c.3189G>A (p.Thr1063=)	rs901685526	0.00001
NM_001130144.3(LTBP3):c.2949C>T (p.Ile983=)	rs781653318
NM_001130144.3(LTBP3):c.2977+10C>T	rs202235144
NM_001130144.3(LTBP3):c.2977+14G>A
NM_001130144.3(LTBP3):c.2977+18C>T	rs909176963
NM_001130144.3(LTBP3):c.2977+20G>A	rs1262752000
NM_001130144.3(LTBP3):c.2977+20G>C	rs1262752000
NM_001130144.3(LTBP3):c.2977+7G>A	rs1159144603
NM_001130144.3(LTBP3):c.2977+9C>T	rs2496128352
NM_001130144.3(LTBP3):c.2991C>T (p.Cys997=)	rs1233017372
NM_001130144.3(LTBP3):c.3000C>T (p.Phe1000=)	rs757120934
NM_001130144.3(LTBP3):c.3003G>A (p.Gly1001=)	rs937607823
NM_001130144.3(LTBP3):c.3006G>T (p.Ser1002=)
NM_001130144.3(LTBP3):c.3027G>A (p.Lys1009=)	rs989924258
NM_001130144.3(LTBP3):c.3033G>A (p.Val1011=)	rs758409486
NM_001130144.3(LTBP3):c.3039G>A (p.Thr1013=)	rs762280637
NM_001130144.3(LTBP3):c.3039G>T (p.Thr1013=)	rs762280637
NM_001130144.3(LTBP3):c.3084C>T (p.Asp1028=)	rs1394582012
NM_001130144.3(LTBP3):c.3087G>A (p.Gly1029=)	rs2496123707
NM_001130144.3(LTBP3):c.3106+12C>T	rs2496123546
NM_001130144.3(LTBP3):c.3106+13C>G
NM_001130144.3(LTBP3):c.3106+14C>G	rs79476747
NM_001130144.3(LTBP3):c.3106+16C>G	rs2135122086
NM_001130144.3(LTBP3):c.3106+18G>C
NM_001130144.3(LTBP3):c.3107-11C>T
NM_001130144.3(LTBP3):c.3107-13T>G	rs2135121557
NM_001130144.3(LTBP3):c.3107-15T>C	rs2496122688
NM_001130144.3(LTBP3):c.3107-17G>A	rs756145309
NM_001130144.3(LTBP3):c.3107-23_3107-15dup	rs770122549
NM_001130144.3(LTBP3):c.3107-24_3107-3dup	rs2496122587
NM_001130144.3(LTBP3):c.3114C>T (p.Asp1038=)
NM_001130144.3(LTBP3):c.3126C>T (p.Asp1042=)
NM_001130144.3(LTBP3):c.3141G>C (p.Arg1047=)	rs1173783574
NM_001130144.3(LTBP3):c.3159C>T (p.Asn1053=)	rs1234564744
NM_001130144.3(LTBP3):c.3183C>G (p.Ala1061=)	rs771961734
NM_001130144.3(LTBP3):c.3198C>G (p.Ala1066=)
NM_001130144.3(LTBP3):c.3234G>A (p.Pro1078=)	rs747479648
NM_001130144.3(LTBP3):c.3244+10G>C
NM_001130144.3(LTBP3):c.3244+13C>T	rs1856037559
NM_001130144.3(LTBP3):c.3244+14C>A
NM_001130144.3(LTBP3):c.3244+14C>T
NM_001130144.3(LTBP3):c.3244+14dup	rs2496121143
NM_001130144.3(LTBP3):c.3244+15G>C	rs1485051695
NM_001130144.3(LTBP3):c.3244+18G>A	rs1419006281
NM_001130144.3(LTBP3):c.3244+9C>G	rs1424200080
NM_001130144.3(LTBP3):c.3245-14C>T	rs978024965
NM_001130144.3(LTBP3):c.3245-15C>T	rs911020870
NM_001130144.3(LTBP3):c.3245-17_3245-14dup	rs1475814976
NM_001130144.3(LTBP3):c.3245-19_3245-10dup	rs2496120273
NM_001130144.3(LTBP3):c.3245-20C>A	rs1490201410
NM_001130144.3(LTBP3):c.3245-20C>T	rs1490201410
NM_001130144.3(LTBP3):c.3252C>T (p.Asp1084=)	rs765891223
NM_001130144.3(LTBP3):c.3279C>T (p.Arg1093=)

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