ClinVar Miner

List of variants in gene MTTP reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_001386140.1(MTTP):c.2448A>G (p.Thr816=) rs576265885 0.00002
NM_001386140.1(MTTP):c.1877G>A (p.Arg626His) rs568076672 0.00001
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111

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