ClinVar Miner

List of variants in gene combination GALK1, ITGB4 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) rs140577812 0.00041
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) rs138928712 0.00019
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg) rs140930313 0.00010
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) rs373278372 0.00010
NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met) rs747376161 0.00009
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) rs147573071 0.00009
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) rs745935518 0.00007
NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu) rs375075647 0.00006
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) rs375975797 0.00005
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln) rs766336707 0.00002
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) rs374857648 0.00001
NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys) rs538467153 0.00001
NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp) rs756507156 0.00001
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) rs774308604 0.00001
NM_000213.5(ITGB4):c.4709-8C>A rs371797130

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