ClinVar Miner

List of variants in gene BCS1L reported as likely benign by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.-49-595A>G rs77487601 0.01635
NM_001079866.2(BCS1L):c.-49-435del rs146786097 0.01347
NM_001079866.2(BCS1L):c.720-86_720-85del rs373333569 0.00574
NM_001079866.2(BCS1L):c.-49-530C>T rs115162602 0.00544
NM_001079866.2(BCS1L):c.-50+555C>A rs138294740 0.00478
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_001079866.2(BCS1L):c.1044C>T (p.Asp348=) rs148941016 0.00024
NM_001079866.2(BCS1L):c.-50+282C>T rs774164629 0.00016
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001079866.2(BCS1L):c.1008-5C>A rs373671954 0.00002
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) rs755305281 0.00001
NM_001079866.2(BCS1L):c.435G>A (p.Lys145=) rs1376788052 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.999C>T (p.His333=) rs200593699 0.00001
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079866.2(BCS1L):c.461-12_461-10del rs767028489
NM_001079866.2(BCS1L):c.461-9_461-7del rs770698586
NM_001079866.2(BCS1L):c.504G>A (p.Met168Ile) rs863223914

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