ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy by Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln) rs199473047 0.00005
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_000426.4(LAMA2):c.4879C>T (p.Arg1627Trp)
NM_017644.3(KLHL24):c.1196G>T (p.Arg399Leu)

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