ClinVar Miner

List of variants studied for DDH1 by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr) rs1057518924
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_001849.4(COL6A2):c.1970-9G>A rs747900252

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