ClinVar Miner

Variants in gene MYL2 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: 15
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000432.4(MYL2):c.275-7G>A rs373241541 0.00006
NM_000432.4(MYL2):c.456C>T (p.Tyr152=) rs199815885 0.00005
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_000432.4(MYL2):c.222G>A (p.Pro74=) rs372644111 0.00002
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.275-16C>G rs1377138024
NM_000432.4(MYL2):c.353+51C>A rs2233260

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