ClinVar Miner

List of variants studied for Birt-Hogg-Dube syndrome 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_144997.7(FLCN):c.1189G>A (p.Val397Met) rs752006809 0.00003
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00002
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677 0.00001
NM_144997.7(FLCN):c.729G>A (p.Ser243=) rs377261933 0.00001
NM_144997.7(FLCN):c.1515C>T (p.Val505=) rs1388452217

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