ClinVar Miner

List of variants studied for Primary dilated cardiomyopathy by CSER _CC_NCGL, University of Washington

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly) rs747374618 0.00001
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile) rs765355046 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159

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