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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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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.5469T>C (p.Leu1823=)	rs370111987	0.00063
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)	rs138152469	0.00061
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)	rs144476508	0.00044
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)	rs368587038	0.00016
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.5019G>A (p.Pro1673=)	rs202139170	0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)	rs150413453	0.00009
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.4940C>T (p.Pro1647Leu)	rs200403976	0.00006
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.1545A>G (p.Glu515=)	rs770648545	0.00003
NM_006662.3(SRCAP):c.8380C>T (p.Arg2794Cys)	rs139190108	0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)	rs78465857	0.00003
NM_006662.3(SRCAP):c.3047G>A (p.Arg1016Gln)	rs759674329	0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)	rs753700157	0.00001
NM_006662.3(SRCAP):c.3775C>T (p.Leu1259Phe)	rs763083399	0.00001
NM_006662.3(SRCAP):c.8379C>T (p.Val2793=)	rs775227556	0.00001
NM_006662.3(SRCAP):c.1020C>G (p.Pro340=)	rs200460366
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val)	rs781392583
NM_006662.3(SRCAP):c.2801A>T (p.Asp934Val)	rs886043671
NM_006662.3(SRCAP):c.3738G>T (p.Gly1246=)	rs748270570
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)	rs1276291921
NM_006662.3(SRCAP):c.6009G>C (p.Gln2003His)	rs1567250467
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)	rs886044120
NM_006662.3(SRCAP):c.791C>T (p.Pro264Leu)	rs779978975
NM_006662.3(SRCAP):c.8679C>T (p.Asp2893=)	rs769111472

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