ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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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.6495-8C>A rs75991082 0.00994
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.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.132C>T (p.Gly44=) rs149628651 0.00180
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
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.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_006662.3(SRCAP):c.8363C>T (p.Pro2788Leu) rs141858791 0.00056
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.8463C>T (p.Pro2821=) rs377100819 0.00030
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.8975CTGTCACCA[1] (p.2992TVT[1]) rs559460451

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