List of variants reported as uncertain significance for cardiomyopathy by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)	rs146882581	0.00396
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	rs142429411	0.00214
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)	rs148041814	0.00178
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	rs145933612	0.00143
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	rs28763965	0.00131
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)	rs138329459	0.00103
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)	rs139139859	0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00094
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)	rs148185335	0.00060
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)	rs193068692	0.00047
NM_004415.4(DSP):c.273+5G>A	rs200473206	0.00031
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)	rs186964570	0.00021
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)	rs143413607	0.00016
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	rs151115778	0.00010
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	rs370057029	0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)	rs144106775	0.00007
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)	rs730880623	0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)	rs535762713	0.00006
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)	rs201040643	0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)	rs879255385	0.00005
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)	rs373598034	0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)	rs753033333	0.00004
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp)	rs748675400	0.00002
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)	rs727502989	0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)	rs372606274	0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)	rs759982048	0.00001
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	rs139794067
NM_000432.4(MYL2):c.353+6T>A	rs372824804
NM_001005242.3(PKP2):c.681C>G (p.Ser227Arg)	rs762263587
NM_001035.3(RYR2):c.13476+8_13476+11dup	rs864309562
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)	rs864309585

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