ClinVar Miner

List of variants reported as likely benign by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_001267550.2(TTN):c.39895+65G>A rs72650068 0.00369
NM_001353921.2(ARHGEF9):c.*146G>C rs782358245 0.00311
NM_001353921.2(ARHGEF9):c.31-29459T>C rs145382128 0.00231
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00026
NM_178138.6(LHX3):c.309G>T (p.Val103=) rs766945737 0.00008
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_020975.6(RET):c.867+4del rs398124368 0.00002
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001276345.2(TNNT2):c.42-82C>T rs1558248842
NM_004004.6(GJB2):c.646A>C (p.Arg216=) rs1446334784
NM_152594.3(SPRED1):c.-294CT[2] rs1048605006

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