ClinVar Miner

List of variants reported as pathogenic for Familial hypercholesterolemia by Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	rs201016593
NM_000527.5(LDLR):c.2312-2A>C
NM_000527.5(LDLR):c.996_998delinsG (p.Lys333fs)

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