ClinVar Miner

List of variants in gene SRCAP studied for Floating-Harbor syndrome

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) rs4889502 0.97867
NM_006662.3(SRCAP):c.2064G>T (p.Arg688=) rs4889500 0.96842
NM_006662.3(SRCAP):c.493-20C>T rs72793372 0.15242
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) rs146421389 0.00015
NM_006662.3(SRCAP):c.*243C>T rs577624873 0.00010
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) rs778737366 0.00004
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln) rs375163006 0.00004
NM_006662.3(SRCAP):c.316A>G (p.Ile106Val) rs777066101 0.00003
NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe) rs202233790 0.00003
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala) rs1226947726 0.00002
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala) rs767130314 0.00001
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) rs587784444 0.00001
NM_006662.3(SRCAP):c.*342del rs886051909
NM_006662.3(SRCAP):c.*358del rs397854666
NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser) rs1596647170
NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn) rs2151288555
NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser) rs2052801296
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2300+10dup rs557150142
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) rs756223991
NM_006662.3(SRCAP):c.2816A>G (p.Gln939Arg) rs1025929747
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg) rs2053005047
NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn) rs1423358122
NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser) rs751529827
NM_006662.3(SRCAP):c.4243dup (p.Met1415fs) rs2151293947
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)
NM_006662.3(SRCAP):c.5594C>T (p.Thr1865Ile)
NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys) rs1019525148
NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg) rs2053089774
NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)
NM_006662.3(SRCAP):c.6729+9dup rs770423372
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) rs587777656
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) rs2053169420
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs) rs2151300039
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006662.3(SRCAP):c.7236_7237del (p.Pro2413fs)
NM_006662.3(SRCAP):c.7287C>A (p.Cys2429Ter) rs758972811
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7364del (p.Pro2455fs)
NM_006662.3(SRCAP):c.7409C>A (p.Ala2470Asp)
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7681C>G (p.Pro2561Ala) rs1215921344
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs) rs587776938
NM_006662.3(SRCAP):c.7937_7938del (p.Val2646fs)
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444
NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu) rs1567254950
NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter) rs143133981
NM_006662.3(SRCAP):c.9490G>A (p.Gly3164Arg)
NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser) rs2052869442

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