ClinVar Miner

List of variants in gene SRCAP reported as likely benign for not specified

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
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.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
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.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.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006662.3(SRCAP):c.5300C>T (p.Thr1767Met) rs181491375 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_006662.2(SRCAP):c.1493-18_1493-14delCTTGGins23
NM_006662.3(SRCAP):c.2778C>G (p.Ala926=)
NM_006662.3(SRCAP):c.492+11C>A
NM_006662.3(SRCAP):c.5343C>T (p.Ala1781=) rs886038572

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