ClinVar Miner

List of variants reported as benign for Cowden syndrome 7

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.834+40T>C rs911115 0.91369
NM_006363.6(SEC23B):c.1665+48C>T rs2295557 0.66701
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_006363.6(SEC23B):c.834+41G>A rs1555353 0.30830
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
NM_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NC_000020.11:g.18507416A>G
NM_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6_604-4del

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