ClinVar Miner

Variants in gene SRCAP with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00064
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00044
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr) rs368587038 0.00016
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 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.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006662.3(SRCAP):c.1493A>T (p.Asp498Val) rs199716597 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006662.3(SRCAP):c.1992A>G (p.Lys664=)
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.6297+17C>T
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120
NM_006662.3(SRCAP):c.7544C>T (p.Pro2515Leu)

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