ClinVar Miner

List of variants in gene SRCAP reported as benign by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) rs4889502 0.97867
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.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_006662.3(SRCAP):c.2589G>A (p.Lys863=) rs151062043 0.00314
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_006662.3(SRCAP):c.5631C>G (p.Pro1877=) rs147477244 0.00233
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
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.4563T>A (p.Pro1521=) rs138541811 0.00064

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