List of variants in gene combination LDLR, MIR6886 reported as pathogenic

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1359-5C>G	rs531005522	0.00004
NM_000527.5(LDLR):c.1359-1G>A	rs139617694	0.00001
FH Osaka 2
NC_000019.10:g.(?_11100213)_(11117013_?)del
NC_000019.10:g.(?_11110632)_(11117018_?)del
NC_000019.10:g.(?_11111494)_(11113782_?)del
NC_000019.10:g.(?_11111504)_(11117013_?)del
NC_000019.10:g.(?_11113272)_(11120528_?)del
NC_000019.10:g.(?_11113278)_(11133830_?)del
NC_000019.9:g.(?_11223934)_(11227694_?)dup
NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]
NM_000527.4(LDLR):c.1186+700_2141-545del
NM_000527.4(LDLR):c.1187-169_2312-790del
NM_000527.4(LDLR):c.190+984_1846-1160del
NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer)
NM_000527.5(LDLR):c.1359-1G>C	rs139617694
NM_000527.5(LDLR):c.1359-25A>G	rs1131692206
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT	rs879254876
NM_000527.5(LDLR):c.695-67_1586+371del
c.941-2966_*2583+4485del

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