ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) rs11570113 0.00001
NM_000257.4(MYH7):c.5122G>A (p.Glu1708Lys) rs1057518857
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520

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