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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)	rs149425237	0.00057
NM_000302.4(PLOD1):c.1471-8C>T	rs201661871	0.00023
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)	rs146360295	0.00016
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.127C>T (p.Arg43Cys)	rs778603432	0.00001
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg)	rs762431149	0.00001
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln)	rs934141011
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.2170_2172del (p.Phe724del)	rs1310692062
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)	rs375416784

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