ClinVar Miner

List of variants in gene PLOD1 reported as likely pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.1097+1G>C rs1389548210 0.00001
NM_000302.4(PLOD1):c.1202+1G>A rs1301268055 0.00001
NM_000302.4(PLOD1):c.1471-2A>G rs1401035675 0.00001
NM_000302.4(PLOD1):c.1584+1G>A rs746930362 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000302.4(PLOD1):c.1999G>A (p.Ala667Thr) rs199730384 0.00001
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00001
NC_000001.10:g.(?_12016954)_(12018724_?)dup
NC_000001.10:g.(?_12022996)_(12026348_?)del
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000302.4(PLOD1):c.1037del (p.Ser346fs)
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1107_1114dup (p.Asp372fs) rs2522849935
NM_000302.4(PLOD1):c.1202+2T>C rs2522850390
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs) rs1362343873
NM_000302.4(PLOD1):c.1262del (p.Ala421fs)
NM_000302.4(PLOD1):c.1328+1G>A rs2522852699
NM_000302.4(PLOD1):c.1329-1G>T rs112460511
NM_000302.4(PLOD1):c.1465C>T (p.Gln489Ter)
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.1581del (p.Glu528fs)
NM_000302.4(PLOD1):c.1584+1G>T rs746930362
NM_000302.4(PLOD1):c.1585-2A>G rs769451292
NM_000302.4(PLOD1):c.1589G>A (p.Trp530Ter)
NM_000302.4(PLOD1):c.1677dup (p.Ile560fs)
NM_000302.4(PLOD1):c.168+1G>T rs2522799648
NM_000302.4(PLOD1):c.1741_1742del (p.Leu581fs)
NM_000302.4(PLOD1):c.1756-1_1767dup rs2522874604
NM_000302.4(PLOD1):c.1780G>T (p.Glu594Ter)
NM_000302.4(PLOD1):c.1839_1902+64del rs2100764790
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.1903-2A>T rs1553137486
NM_000302.4(PLOD1):c.1934dup (p.Tyr645Ter)
NM_000302.4(PLOD1):c.2081_2082dup (p.Gly695fs)
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro) rs1645686564
NM_000302.4(PLOD1):c.282_283del (p.Val95fs) rs2522805333
NM_000302.4(PLOD1):c.302+1G>T
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.415G>T (p.Glu139Ter)
NM_000302.4(PLOD1):c.467-2A>G rs571824470
NM_000302.4(PLOD1):c.580-2A>G rs2522822079
NM_000302.4(PLOD1):c.644-2A>G rs369038766
NM_000302.4(PLOD1):c.698_699insCCTCTGGCCTA (p.Asp234fs)
NM_000302.4(PLOD1):c.742-2A>G
NM_000302.4(PLOD1):c.76+1G>T
NM_000302.4(PLOD1):c.76+2T>G
NM_000302.4(PLOD1):c.82del (p.Leu28fs)
NM_000302.4(PLOD1):c.843+1del
NM_000302.4(PLOD1):c.975+2_975+3insTT rs2522834464
NM_000302.4(PLOD1):c.976-2A>G rs1375808651
NM_000302.4(PLOD1):c.976-2A>T rs1375808651
NM_000302.4(PLOD1):c.979dup (p.Gln327fs) rs2100754171

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