ClinVar Miner

List of variants in gene combination LOC130006027, LTBP3 reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3373G>A (p.Glu1125Lys) rs1354344584 0.00002
NM_001130144.3(LTBP3):c.3344G>A (p.Gly1115Glu) rs1180246193 0.00001
NM_001130144.3(LTBP3):c.3367C>T (p.Leu1123Phe) rs1856013438 0.00001
NM_001130144.3(LTBP3):c.3385G>A (p.Glu1129Lys) rs1336376702 0.00001
NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val) rs1338933893 0.00001
NM_001130144.3(LTBP3):c.3395C>T (p.Pro1132Leu) rs1220739417 0.00001
NM_001130144.3(LTBP3):c.3332C>T (p.Pro1111Leu) rs1260387556
NM_001130144.3(LTBP3):c.3337G>A (p.Val1113Met) rs1404191221
NM_001130144.3(LTBP3):c.3341C>G (p.Pro1114Arg)
NM_001130144.3(LTBP3):c.3343_3348dup (p.Gly1115_Pro1116dup) rs2135119802
NM_001130144.3(LTBP3):c.3346C>T (p.Pro1116Ser)
NM_001130144.3(LTBP3):c.3355C>G (p.Arg1119Gly) rs1459646851
NM_001130144.3(LTBP3):c.3359A>T (p.Asp1120Val) rs2496118904
NM_001130144.3(LTBP3):c.3382G>T (p.Ala1128Ser)
NM_001130144.3(LTBP3):c.3383C>T (p.Ala1128Val) rs2496118670
NM_001130144.3(LTBP3):c.3384C>T (p.Ala1128=) rs1054389826
NM_001130144.3(LTBP3):c.3385+5G>A
NM_001130144.3(LTBP3):c.3385+6G>C rs1345585745
NM_001130144.3(LTBP3):c.3386-3C>T

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