ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs) rs1892824277
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter) rs2150449007
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) rs2150860676
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462

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