ClinVar Miner

List of variants studied for Bruck syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_182943.3(PLOD2):c.2104G>T (p.Val702Leu) rs780062874
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) rs764056697

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