ClinVar Miner

List of variants in gene PDLIM3 reported as benign for Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014476.6(PDLIM3):c.906C>T (p.Val302=) rs4635850 0.69865
NM_014476.6(PDLIM3):c.906-18C>T rs12644280 0.12920
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.02917
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=) rs116775669 0.02423
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=) rs61734674 0.00997
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=) rs61734675 0.00785
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00697
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00138
NM_014476.6(PDLIM3):c.663-16C>T rs527271064 0.00040
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00036
NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) rs146768859 0.00026
NM_014476.6(PDLIM3):c.399-10A>G rs199979457 0.00015
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) rs201185673 0.00014
NM_014476.6(PDLIM3):c.399-4A>G rs187859259 0.00007
NM_014476.6(PDLIM3):c.414C>T (p.Pro138=) rs553881498 0.00004
NM_014476.6(PDLIM3):c.246-9_246-5del rs765292127

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