ClinVar Miner

List of variants in gene PLOD1 reported as pathogenic

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Total variants: 27
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HGVS dbSNP
GRCh37/hg19 1p36.22(chr1:12019879-12028775)
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.10:g.(?_12020703)_(12020824_?)del
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter)
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) rs1057518879
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2A>G rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.583C>T (p.Gln195Ter) rs1553134578
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282

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