ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(?_11089362)_(11089615_?)del
NC_000019.10:g.(?_11089529)_(11100365_?)del
NC_000019.10:g.(?_11100203)_(11102806_?)del
NC_000019.10:g.(?_11102644)_(11107534_?)del
NC_000019.10:g.(?_11110632)_(11117018_?)del
NC_000019.10:g.(?_11111494)_(11113782_?)del
NC_000019.10:g.(?_11113272)_(11120528_?)del
NC_000019.10:g.(?_11113278)_(11133830_?)del
NC_000019.10:g.(?_11116074)_(11131359_?)del
NC_000019.10:g.(?_11120072)_(11120608_?)del
NC_000019.10:g.(?_11127988)_(11128105_?)del
NC_000019.10:g.(?_11129513)_(11133830_?)del
NC_000019.9:g.(?_11210879)_(11222335_?)dup
NC_000019.9:g.(?_11215876)_(11222335_?)dup
NC_000019.9:g.(?_11223934)_(11227694_?)dup
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NC_000019.9:g.(?_11238684)_(11248011_?)dup
NM_000527.4(LDLR):c.1846-?_2311+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.2001del (p.Cys667fs) rs1060500988
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) rs878854029
NM_000527.5(LDLR):c.379del (p.Val127fs) rs878854028
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719

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