ClinVar Miner

List of variants reported as likely pathogenic for connective tissue neoplasm by Invitae

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000127.2(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.2(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.2(EXT1):c.1884-1G>T rs1131691623
NM_000127.2(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.2(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
NM_001285829.1(CEBPA):c.-172_-168del rs1060502121
NM_001285829.1(CEBPA):c.-38del rs1600023511
NM_004364.4(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.311T>C (p.Phe104Ser) rs1196161699
NM_005373.2(MPL):c.981-1G>C rs769297582
NM_005373.3(MPL):c.1165+1G>C
NM_005373.3(MPL):c.1309-1G>T
NM_005373.3(MPL):c.1469-1G>T
NM_005373.3(MPL):c.1573del (p.Arg525fs)
NM_005373.3(MPL):c.79+2T>A rs146249964

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