ClinVar Miner

List of variants in gene SRCAP reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile) rs748447295 0.00013
NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln) rs186883352 0.00012
NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu) rs368577129 0.00011
NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr) rs978664247 0.00008
NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr) rs374725943 0.00007
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) rs74015039 0.00007
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu) rs374858506 0.00005
NM_006662.3(SRCAP):c.492+3A>G rs766539368 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) rs530672259 0.00004
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu) rs759342420 0.00002
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) rs140083344 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.2130+6A>T rs894326862 0.00001
NM_006662.3(SRCAP):c.2402G>A (p.Arg801His) rs1368368027 0.00001
NM_006662.3(SRCAP):c.278A>G (p.His93Arg) rs555507140 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His) rs754130604 0.00001
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser) rs143556666 0.00001
NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu) rs1402428342 0.00001
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln) rs754274438 0.00001
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp) rs371915992 0.00001
NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr) rs753836409 0.00001
NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg) rs770109840 0.00001
NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys) rs760273993 0.00001
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val) rs781392583
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp) rs2052998876
NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu) rs982570410
NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu) rs140379834
NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser) rs780593546
NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu) rs757626317
NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle) rs767382265
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007

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