ClinVar Miner

List of variants in gene PLOD2 reported as benign for Bruck syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000935.2(PLOD2):c.-212C>T rs564744346
NM_000935.2(PLOD2):c.-412C>T rs79723478
NM_182943.3(PLOD2):c.*171T>G rs13079521
NM_182943.3(PLOD2):c.*32T>C
NM_182943.3(PLOD2):c.*37A>G rs6710
NM_182943.3(PLOD2):c.*764A>G rs141834169
NM_182943.3(PLOD2):c.*847C>T rs3792347
NM_182943.3(PLOD2):c.-104G>T
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) rs116803293
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193
NM_182943.3(PLOD2):c.1500+12A>G rs73010484
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445
NM_182943.3(PLOD2):c.338+4G>A rs4681297
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys)
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692

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