List of variants reported as benign for Cutis laxa

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	rs2430347	0.76291
NM_006329.4(FBLN5):c.-414C>T	rs7149187	0.26340
NM_006907.4(PYCR1):c.576T>C (p.Gly192=)	rs872029	0.07170
NM_006329.4(FBLN5):c.*623A>T	rs77357345	0.02046
NM_006329.4(FBLN5):c.*514A>G	rs17804735	0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)	rs145515678	0.01635
NM_006329.4(FBLN5):c.989+13G>A	rs74071605	0.01368
NM_006329.4(FBLN5):c.863-13C>T	rs74071606	0.01336
NM_006329.4(FBLN5):c.*326G>A	rs79375113	0.01197
NM_006329.4(FBLN5):c.*329T>C	rs115237925	0.01197
NM_006907.4(PYCR1):c.*272G>A	rs3744807	0.00977
NM_006907.4(PYCR1):c.894C>T (p.Thr298=)	rs35589179	0.00828
NM_006907.4(PYCR1):c.*68C>T	rs113083225	0.00744
NM_006907.4(PYCR1):c.540+11C>T	rs149159844	0.00674
NM_006329.4(FBLN5):c.*423T>C	rs17731705	0.00543
NM_006329.4(FBLN5):c.502+15G>C	rs190933127	0.00456
NM_006329.4(FBLN5):c.620-8T>C	rs147699855	0.00324
NM_006329.4(FBLN5):c.*647C>T	rs10197	0.00262
NM_006329.4(FBLN5):c.-411A>G	rs143296045	0.00240
NM_006329.4(FBLN5):c.-152C>T	rs139387007	0.00199
NM_006329.4(FBLN5):c.*648G>A	rs182435130	0.00140
NM_006329.4(FBLN5):c.714T>A (p.Leu238=)	rs141152607	0.00134
NM_006329.4(FBLN5):c.862+12C>T	rs202088447	0.00025
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	rs200178859	0.00021
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	rs142907552	0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	rs144288844	0.00019
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	rs148660796	0.00014
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)	rs560780691	0.00008
NM_006329.4(FBLN5):c.-57G>A	rs546827390	0.00004
NM_006329.4(FBLN5):c.-458G>A	rs369441736	0.00002
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)	rs747288805	0.00001
NM_006907.4(PYCR1):c.-62G>A	rs573221309	0.00001

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