ClinVar Miner

List of variants reported as benign for Loeys-Dietz syndrome 4

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001135599.3(TGFB2):c.1017-6delT rs11285412
NM_003238.5(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.5(TGFB2):c.510+12TTG[12] rs10482769
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) rs4252345
NM_003239.4(TGFB3):c.288C>T (p.Thr96=) rs201047560
NM_003239.4(TGFB3):c.34C>T (p.Leu12=) rs143612445
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_003239.4(TGFB3):c.88T>C (p.Leu30=) rs3917145

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