ClinVar Miner

List of variants reported as likely benign for Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273

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