ClinVar Miner

List of variants reported as uncertain significance for Cardiomyopathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.732+14G>C rs762982193 0.00001
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) rs1343869103 0.00001
NC_000001.11:g.156115286C>T
NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly) rs727504345
NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser) rs2142849872
NM_000256.3(MYBPC3):c.407-9T>G rs2142868275
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)
NM_001267550.2(TTN):c.22556_22558dup (p.Ile7519_Lys7520insIle) rs2154301633
NM_001927.4(DES):c.-2C>T
NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)
NM_004415.4(DSP):c.4044G>A (p.Leu1348=)
NM_017636.4(TRPM4):c.1496G>A (p.Arg499Gln) rs2122936347
NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)

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