ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000093.4(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_000093.4(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820

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