ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001278074.1(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_001278074.1(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
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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