ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy 1 by Mendelics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00007
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val) rs727504358 0.00001
NM_000257.4(MYH7):c.2420G>C (p.Arg807Pro) rs141414377
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly) rs727503249
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu) rs3218713
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_001018005.2(TPM1):c.179A>G (p.Tyr60Cys) rs1596303148

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