List of variants in gene LDLR studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00006
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)	rs748554592	0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys)	rs779913921	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)	rs370820135	0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)	rs746834464	0.00001
NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly)
NM_000527.5(LDLR):c.1221C>G (p.His407Gln)
NM_000527.5(LDLR):c.1225G>A (p.Val409Ile)
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)	rs368708058
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)	rs773566855
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)	rs875989921
NM_000527.5(LDLR):c.1514G>C (p.Gly505Ala)
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu)	rs879254931
NM_000527.5(LDLR):c.1586+5G>C	rs781362878
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)	rs879255066
NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)	rs879255141
NM_000527.5(LDLR):c.2141-5T>C
NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs)	rs1555808094
NM_000527.5(LDLR):c.2384C>G (p.Pro795Arg)
NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)
NM_000527.5(LDLR):c.302A>G (p.Glu101Gly)	rs2077233012
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)	rs875989901
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)	rs879254534
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)	rs879254558
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)	rs768925824

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