ClinVar Miner

Variants in gene ITGB4 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe) rs143203816 0.00370
NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu) rs62639300 0.00357
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_000213.5(ITGB4):c.1434G>T (p.Gln478His) rs8079267 0.00227
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_000213.5(ITGB4):c.3598G>A (p.Gly1200Arg) rs75129664 0.00136
NM_000213.5(ITGB4):c.1428C>T (p.Cys476=) rs149030156 0.00081
NM_000213.5(ITGB4):c.2531G>T (p.Arg844Leu) rs140819116 0.00051
NM_000213.5(ITGB4):c.2108A>G (p.Lys703Arg) rs56119997 0.00035
NM_000213.5(ITGB4):c.1056G>A (p.Ser352=) rs187527294 0.00028
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000213.5(ITGB4):c.1242C>A (p.Ala414=) rs745527527 0.00015
NM_000213.5(ITGB4):c.210G>A (p.Ala70=) rs200500313 0.00014
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) rs147480547
NM_000213.5(ITGB4):c.57C>T (p.Ser19=)

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