ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, type 4 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1455+4C>T rs1422454033
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) rs1553508597
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946

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