ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys) rs563225941 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln) rs757482925 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001458.5(FLNC):c.233G>A (p.Ser78Asn) rs2128932201
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg) rs1585147935
NM_001458.5(FLNC):c.3193-2_3201del
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr) rs2128937841
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_001458.5(FLNC):c.5298G>A (p.Trp1766Ter)
NM_001458.5(FLNC):c.6300C>G (p.Tyr2100Ter)
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3913del (p.Asp1305fs)
NM_004415.4(DSP):c.4477G>T (p.Glu1493Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_198060.4(NRAP):c.3301-2A>G rs2133935229

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