ClinVar Miner

List of variants in gene PLOD1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000302.4(PLOD1):c.1471-8C>T rs201661871 0.00023
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=) rs200131516 0.00018
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys) rs202003686 0.00009
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554 0.00003
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg) rs773756799 0.00002
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys) rs778603432 0.00001
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=) rs1359830439 0.00001
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg) rs762431149 0.00001
GRCh37/hg19 1p36.22(chr1:12020703-12027148)x3
GRCh37/hg19 1p36.22(chr1:12030727-12030873)x1
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln) rs934141011
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=) rs2100758313
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT rs1553136318
NM_000302.4(PLOD1):c.1902G>A (p.Arg634=) rs1553137207
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000302.4(PLOD1):c.30G>A (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.366C>T (p.Ser122=)
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg) rs375416784

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