ClinVar Miner

List of variants in gene EXT1 reported as benign for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000127.2(EXT1):c.-266C>T rs76805972
NM_000127.2(EXT1):c.-324C>G rs144282710
NM_000127.2(EXT1):c.-500T>G rs372210548
NM_000127.2(EXT1):c.-509C>G rs78824154
NM_000127.2(EXT1):c.-635C>T rs188740055
NM_000127.2(EXT1):c.-722T>C rs192302720
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.117A>G (p.Glu39=) rs78429222
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.1761G>A (p.Glu587=) rs7837891
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
NM_000127.2(EXT1):c.962+8_962+11del rs138812713
NM_000127.3(EXT1):c.1057-12dup
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656

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