ClinVar Miner

List of variants in gene SRCAP reported by Genetic Services Laboratory, University of Chicago

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Total variants: 14
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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.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe) rs149217909 0.00130
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.189C>G (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7382del (p.Pro2461fs) rs2151300137
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter) rs587784444

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