ClinVar Miner

List of variants reported as likely pathogenic by Klaassen Lab,Charite University Medicine Berlin

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Total variants: 12
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) rs1603377936
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter) rs1599907512
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val) rs757577112
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_004572.3(PKP2):c.1716del (p.Arg573fs) rs1592738654
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726

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