ClinVar Miner

Variants in gene SMARCA4 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val) rs145749221 0.00017
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9]) rs372601826
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760

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