ClinVar Miner

List of variants in gene SRCAP studied for not specified

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Gene type:
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Total variants: 55
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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.493-20C>T rs72793372 0.15242
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.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.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.5631C>G (p.Pro1877=) rs147477244 0.00233
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
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.8755C>T (p.Leu2919Phe) rs149217909 0.00130
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
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.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006662.3(SRCAP):c.5420C>T (p.Ala1807Val) rs150467782 0.00039
NM_006662.3(SRCAP):c.3172C>T (p.Pro1058Ser) rs145506785 0.00017
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00006
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006662.3(SRCAP):c.391C>G (p.Pro131Ala) rs148079550 0.00003
NM_006662.3(SRCAP):c.5300C>T (p.Thr1767Met) rs181491375 0.00003
NM_006662.3(SRCAP):c.7523C>T (p.Pro2508Leu) rs201916514 0.00003
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006662.3(SRCAP):c.4001C>T (p.Pro1334Leu) rs560375220 0.00001
NM_006662.2(SRCAP):c.1493-18_1493-14delCTTGGins23
NM_006662.3(SRCAP):c.189C>G (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.2221C>T (p.Arg741Cys)
NM_006662.3(SRCAP):c.2778C>G (p.Ala926=)
NM_006662.3(SRCAP):c.3248C>G (p.Pro1083Arg) rs1288652197
NM_006662.3(SRCAP):c.3991C>A (p.Pro1331Thr)
NM_006662.3(SRCAP):c.4055G>A (p.Arg1352Gln)
NM_006662.3(SRCAP):c.4082C>T (p.Ala1361Val)
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met) rs1246765240
NM_006662.3(SRCAP):c.492+11C>A
NM_006662.3(SRCAP):c.5343C>T (p.Ala1781=) rs886038572
NM_006662.3(SRCAP):c.5677C>T (p.Arg1893Trp)
NM_006662.3(SRCAP):c.6297+17C>T
NM_006662.3(SRCAP):c.7409C>T (p.Ala2470Val)
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007
NM_006662.3(SRCAP):c.8222C>T (p.Pro2741Leu)
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.9563G>A (p.Arg3188His)

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