List of variants studied for Hypercholesterolemia, familial, 4 by Revvity Omics, Revvity

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	rs121908325	0.00001
NM_015627.3(LDLRAP1):c.431dup (p.His144fs)	rs750383461	0.00001
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)	rs868193249
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)
NM_015627.3(LDLRAP1):c.231+1G>T
NM_015627.3(LDLRAP1):c.344+1G>A	rs545662810
NM_015627.3(LDLRAP1):c.538_541del (p.Glu180fs)
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	rs781585299
NM_015627.3(LDLRAP1):c.617-2A>G
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	rs121908324
NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)	rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)	rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C	rs755104973

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