ClinVar Miner

List of variants reported as benign for Bruck syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_182943.3(PLOD2):c.338+4G>A rs4681297 0.77857
NM_182943.3(PLOD2):c.*37A>G rs6710 0.51778
NM_182943.3(PLOD2):c.2121+26A>G rs2305274 0.50798
NM_182943.3(PLOD2):c.680-45C>T rs3762691 0.47733
NM_182943.3(PLOD2):c.503-47T>C rs9289716 0.47727
NM_182943.3(PLOD2):c.339-22dup rs3842573 0.40215
NM_182943.3(PLOD2):c.1500+12A>G rs73010484 0.23989
NM_182943.3(PLOD2):c.*847C>T rs3792347 0.09680
NM_182943.3(PLOD2):c.*171T>G rs13079521 0.02719
NM_000935.2(PLOD2):c.-412C>T rs79723478 0.02050
NM_000935.2(PLOD2):c.-212C>T rs564744346 0.01058
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) rs116803293 0.00701
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_182943.3(PLOD2):c.*32T>C rs148862685 0.00531
NM_182943.3(PLOD2):c.-104G>T rs573663835 0.00486
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_182943.3(PLOD2):c.*764A>G rs141834169 0.00429
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412 0.00288
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692 0.00061
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys) rs557891596 0.00001
NM_021939.4(FKBP10):c.1256+17dup rs55720039

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