ClinVar Miner

List of variants in gene SRCAP reported as benign

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Gene type:
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Total variants: 103
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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.2130+85C>T rs4889501 0.96841
NM_006662.3(SRCAP):c.5659-145T>C rs2053426 0.96347
NM_006662.3(SRCAP):c.2818-211G>C rs10153105 0.95216
NM_006662.3(SRCAP):c.306+272T>C rs7197770 0.44043
NM_006662.3(SRCAP):c.493-20C>T rs72793372 0.15242
NM_006662.3(SRCAP):c.6297+56C>T rs62057183 0.09818
NM_006662.3(SRCAP):c.6729+40C>T rs62057184 0.09385
NM_006662.3(SRCAP):c.2493+120G>A rs80323213 0.03509
NM_006662.3(SRCAP):c.54+206C>T rs77949246 0.03396
NM_006662.3(SRCAP):c.54+73G>T rs73536498 0.03158
NM_006662.3(SRCAP):c.54+122C>A rs73536499 0.03156
NM_006662.3(SRCAP):c.7009-211A>C rs148311339 0.02484
NM_006662.3(SRCAP):c.306+4C>T rs58723456 0.02136
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_006662.3(SRCAP):c.6495-8C>A rs75991082 0.00994
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
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.4596A>C (p.Ser1532=) rs114204931 0.00331
NM_006662.3(SRCAP):c.8350A>C (p.Thr2784Pro) rs73538429 0.00320
NM_006662.3(SRCAP):c.2589G>A (p.Lys863=) rs151062043 0.00314
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_006662.3(SRCAP):c.9112T>C (p.Leu3038=) rs146017505 0.00235
NM_006662.3(SRCAP):c.5631C>G (p.Pro1877=) rs147477244 0.00233
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=) rs140511721 0.00185
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_006662.3(SRCAP):c.8851C>G (p.Pro2951Ala) rs144944402 0.00070
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_006662.3(SRCAP):c.307-7T>C rs201397245 0.00059
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006662.3(SRCAP):c.5006C>T (p.Pro1669Leu) rs189892751 0.00058
NM_006662.3(SRCAP):c.8363C>T (p.Pro2788Leu) rs141858791 0.00056
NM_006662.3(SRCAP):c.1162C>G (p.Gln388Glu) rs201156311 0.00052
NM_006662.3(SRCAP):c.633+9T>C rs150267250 0.00046
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.492+11C>T rs192794742 0.00033
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) rs147473528 0.00032
NM_006662.3(SRCAP):c.8463C>T (p.Pro2821=) rs377100819 0.00030
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp) rs141497857 0.00030
NM_006662.3(SRCAP):c.6610-20C>G rs542226346 0.00022
NM_006662.3(SRCAP):c.1135-14C>T rs534965827 0.00019
NM_006662.3(SRCAP):c.3532C>T (p.Arg1178Cys) rs200261271 0.00019
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 0.00014
NM_006662.3(SRCAP):c.2631-5C>T rs543589462 0.00012
NM_006662.3(SRCAP):c.2818-15T>G rs769499061 0.00012
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) rs200333706 0.00009
NM_006662.3(SRCAP):c.1228+14G>A rs774745249 0.00008
NM_006662.3(SRCAP):c.8886C>T (p.Ser2962=) rs185172515 0.00008
NM_006662.3(SRCAP):c.2760C>T (p.Gly920=) rs527275720 0.00006
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00006
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) rs773168431 0.00006
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=) rs758398423 0.00006
NM_006662.3(SRCAP):c.7157A>G (p.Lys2386Arg) rs189201995 0.00005
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.1224G>C (p.Glu408Asp) rs557790573 0.00001
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.-209-149G>C rs7187691
NM_006662.3(SRCAP):c.-209-255A>C rs2972803
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) rs780939002
NM_006662.3(SRCAP):c.1319-14del rs2151288313
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1816-18A>G
NM_006662.3(SRCAP):c.189C>G (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.1994-10dup
NM_006662.3(SRCAP):c.2064= (p.Arg688=)
NM_006662.3(SRCAP):c.2493+204dup rs34824568
NM_006662.3(SRCAP):c.2574C>T (p.Arg858=)
NM_006662.3(SRCAP):c.2694A>G (p.Arg898=)
NM_006662.3(SRCAP):c.2988-8dup
NM_006662.3(SRCAP):c.3254-104C>G rs1470129
NM_006662.3(SRCAP):c.3834G>A (p.Ser1278=)
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.4218= (p.Ser1406=)
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met) rs1246765240
NM_006662.3(SRCAP):c.4663C>T (p.Leu1555=)
NM_006662.3(SRCAP):c.55-109A>C rs56209507
NM_006662.3(SRCAP):c.5870G>A (p.Arg1957Gln)
NM_006662.3(SRCAP):c.5986C>T (p.Pro1996Ser)
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006662.3(SRCAP):c.6730-14A>G
NM_006662.3(SRCAP):c.7539G>T (p.Pro2513=) rs34062097
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.8667C>G (p.Thr2889=)
NM_006662.3(SRCAP):c.8975CTGTCACCA[1] (p.2992TVT[1]) rs559460451

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