ClinVar Miner

List of variants reported as benign for Beare-Stevenson cutis gyrata syndrome

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100

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