List of variants in gene SRCAP reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 78

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HGVS	dbSNP	gnomAD frequency
NM_006662.3(SRCAP):c.493-20C>T	rs72793372	0.15242
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)	rs79597785	0.01517
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.3388C>T (p.Pro1130Ser)	rs143519723	0.00290
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe)	rs149217909	0.00130
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn)	rs142242633	0.00093
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)	rs138152469	0.00061
NM_006662.3(SRCAP):c.5420C>T (p.Ala1807Val)	rs150467782	0.00039
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del)	rs565950672	0.00039
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=)	rs140675498	0.00039
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys)	rs201133838	0.00038
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser)	rs139886717	0.00034
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=)	rs202092944	0.00031
NM_006662.3(SRCAP):c.6129A>G (p.Gly2043=)	rs142252684	0.00021
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	rs139524110	0.00019
NM_006662.3(SRCAP):c.3532C>T (p.Arg1178Cys)	rs200261271	0.00019
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr)	rs143103128	0.00017
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=)	rs368322185	0.00016
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)	rs368587038	0.00016
NM_006662.3(SRCAP):c.1767A>G (p.Ala589=)	rs138290515	0.00012
NM_006662.3(SRCAP):c.3176C>T (p.Pro1059Leu)	rs201831987	0.00012
NM_006662.3(SRCAP):c.4621G>A (p.Val1541Met)	rs201407582	0.00011
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=)	rs199928454	0.00011
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)	rs201837401	0.00009
NM_006662.3(SRCAP):c.3542-5T>C	rs141077295	0.00008
NM_006662.3(SRCAP):c.6140C>T (p.Thr2047Met)	rs144253022	0.00008
NM_006662.3(SRCAP):c.2760C>T (p.Gly920=)	rs527275720	0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	rs200175704	0.00006
NM_006662.3(SRCAP):c.5918T>C (p.Ile1973Thr)	rs772327836	0.00006
NM_006662.3(SRCAP):c.8096C>T (p.Ala2699Val)	rs747073084	0.00004
NM_006662.3(SRCAP):c.5300C>T (p.Thr1767Met)	rs181491375	0.00003
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=)	rs368981651	0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=)	rs765152833	0.00002
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp)	rs371915992	0.00001
NM_006662.3(SRCAP):c.1126G>A (p.Val376Met)
NM_006662.3(SRCAP):c.1151C>T (p.Ser384Phe)
NM_006662.3(SRCAP):c.1303G>C (p.Glu435Gln)
NM_006662.3(SRCAP):c.1455G>A (p.Ala485=)
NM_006662.3(SRCAP):c.1493-8C>A	rs184337406
NM_006662.3(SRCAP):c.2365A>G (p.Met789Val)
NM_006662.3(SRCAP):c.2630+9G>A
NM_006662.3(SRCAP):c.294A>G (p.Glu98=)
NM_006662.3(SRCAP):c.3254-6C>G
NM_006662.3(SRCAP):c.3598A>T (p.Asn1200Tyr)
NM_006662.3(SRCAP):c.3897A>G (p.Pro1299=)
NM_006662.3(SRCAP):c.4203C>G (p.Leu1401=)
NM_006662.3(SRCAP):c.4286_4287del (p.Ser1429fs)
NM_006662.3(SRCAP):c.4614C>T (p.Asn1538=)
NM_006662.3(SRCAP):c.4729TCT[3] (p.Ser1578_Ala1579insSer)
NM_006662.3(SRCAP):c.4905G>A (p.Ser1635=)
NM_006662.3(SRCAP):c.5011C>T (p.Pro1671Ser)
NM_006662.3(SRCAP):c.5118C>A (p.Asn1706Lys)
NM_006662.3(SRCAP):c.5182C>G (p.Pro1728Ala)
NM_006662.3(SRCAP):c.5234C>T (p.Thr1745Met)
NM_006662.3(SRCAP):c.5343C>T (p.Ala1781=)	rs886038572
NM_006662.3(SRCAP):c.5574C>T (p.Pro1858=)
NM_006662.3(SRCAP):c.5870G>A (p.Arg1957Gln)
NM_006662.3(SRCAP):c.6141G>A (p.Thr2047=)
NM_006662.3(SRCAP):c.6192C>G (p.Ile2064Met)
NM_006662.3(SRCAP):c.6438T>C (p.Ala2146=)
NM_006662.3(SRCAP):c.6494+7C>T
NM_006662.3(SRCAP):c.664G>C (p.Glu222Gln)
NM_006662.3(SRCAP):c.6888C>T (p.Ser2296=)
NM_006662.3(SRCAP):c.7133C>T (p.Thr2378Ile)
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	rs199469464
NM_006662.3(SRCAP):c.755A>T (p.Asn252Ile)
NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)
NM_006662.3(SRCAP):c.8456C>T (p.Thr2819Ile)
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys)	rs144623507
NM_006662.3(SRCAP):c.8548G>T (p.Ala2850Ser)
NM_006662.3(SRCAP):c.857-4A>G
NM_006662.3(SRCAP):c.8975CTGTCACCA[1] (p.2992TVT[1])	rs559460451
NM_006662.3(SRCAP):c.9313G>A (p.Glu3105Lys)
NM_006662.3(SRCAP):c.9374G>T (p.Gly3125Val)
NM_006662.3(SRCAP):c.9606A>C (p.Gln3202His)
NM_006662.3(SRCAP):c.9676C>T (p.Arg3226Cys)

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