ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1G by Phosphorus, Inc.

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=) rs779159076 0.00004
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) rs779159076
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) rs184027783
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) rs182640468

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