ClinVar Miner

List of variants in gene PLOD1 studied for Ehlers-Danlos syndrome

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000302.4(PLOD1):c.1202+3G>A rs370358836 0.00005
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met) rs371223839 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000302.4(PLOD1):c.354G>A (p.Arg118=) rs746072884 0.00002
NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys) rs769620321 0.00002
NM_000302.4(PLOD1):c.70C>T (p.Pro24Ser) rs1395571164 0.00002
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu) rs753623016 0.00001
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu) rs766973023 0.00001
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) rs1439043436 0.00001
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) rs1487304416 0.00001
NM_000302.4(PLOD1):c.873C>T (p.Gly291=) rs1391173198 0.00001
NM_000302.4(PLOD1):c.125G>A (p.Arg42His) rs202116614
NM_000302.4(PLOD1):c.1362del (p.Tyr455fs) rs2100758252
NM_000302.4(PLOD1):c.303-5C>T rs1645690340
NM_000302.4(PLOD1):c.331C>A (p.Arg111=) rs772221158
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del) rs775053632
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_000302.4(PLOD1):c.979dup (p.Gln327fs) rs2100754171

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