ClinVar Miner

Variants in gene MYL2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000432.4(MYL2):c.275-12G>A rs750937792 0.00001
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.402+8G>T rs886048959

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