ClinVar Miner

List of variants in gene PLOD1 reported as pathogenic for Ehlers-Danlos syndrome, kyphoscoliotic type 1

Included ClinVar conditions (1):
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551 0.00003
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000302.4(PLOD1):c.467-2del rs1440249864 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282 0.00001
NC_000001.10:g.(?_12008013)_(12008144_?)del
NC_000001.10:g.(?_12014867)_(12014970_?)del
NC_000001.10:g.(?_12020683)_(12027168_?)dup
NC_000001.10:g.(?_12020693)_(12027158_?)dup
NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup
NC_000001.11:g.(?_11949763)_(11952745_?)del
NC_000001.11:g.11963531GA[1]
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) rs1569713366
NM_000302.4(PLOD1):c.1170_1192del (p.Asn391fs) rs2100756997
NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)
NM_000302.4(PLOD1):c.1256G>A (p.Trp419Ter)
NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)
NM_000302.4(PLOD1):c.1281C>A (p.Tyr427Ter)
NM_000302.4(PLOD1):c.1365C>G (p.Tyr455Ter)
NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter) rs1189324317
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000302.4(PLOD1):c.153dup (p.Asn52fs)
NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.4(PLOD1):c.1646del (p.Glu549fs) rs2100760068
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.1651-2del rs797044447
NM_000302.4(PLOD1):c.1670_1671delinsAA (p.Trp557Ter)
NM_000302.4(PLOD1):c.1698T>A (p.Cys566Ter)
NM_000302.4(PLOD1):c.1711G>T (p.Glu571Ter)
NM_000302.4(PLOD1):c.1772del (p.Gly591fs) rs1645855563
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.180del (p.Glu62fs)
NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)
NM_000302.4(PLOD1):c.1813C>T (p.Gln605Ter)
NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.4(PLOD1):c.2025C>G (p.Tyr675Ter) rs1434924385
NM_000302.4(PLOD1):c.272del (p.Lys91fs) rs2100743480
NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.331del (p.Arg111fs)
NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter) rs1645691337
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.486dup (p.Asn163fs)
NM_000302.4(PLOD1):c.579+1G>A rs797044448
NM_000302.4(PLOD1):c.707_710del (p.Leu236fs)
NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)
NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)

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