ClinVar Miner

List of variants in gene combination LOC126807246, PDLIM3 reported as uncertain significance for Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_014476.6(PDLIM3):c.331G>C (p.Asp111His) rs143725812 0.00003
NM_014476.6(PDLIM3):c.346G>C (p.Glu116Gln) rs769389710 0.00003
NM_014476.6(PDLIM3):c.334G>A (p.Gly112Arg) rs777447396 0.00001
NM_014476.6(PDLIM3):c.354G>C (p.Lys118Asn) rs1295481759 0.00001
NC_000004.11:g.(?_186423428)_(186456608_?)dup
NM_014476.5(PDLIM3):c.-124_*1634dup2853
NM_014476.6(PDLIM3):c.331-1G>A rs745661778
NM_014476.6(PDLIM3):c.344T>A (p.Phe115Tyr) rs1259450618
NM_014476.6(PDLIM3):c.347A>C (p.Glu116Ala)
NM_014476.6(PDLIM3):c.359A>G (p.Asn120Ser)
NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp)
NM_014476.6(PDLIM3):c.386C>T (p.Pro129Leu)
NM_014476.6(PDLIM3):c.388G>A (p.Gly130Ser) rs2095711219
NM_014476.6(PDLIM3):c.398+5T>G rs2153335451

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