ClinVar Miner

List of variants studied for nutritional disorder by Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000376.3(VDR):c.-45A>G rs752414831 0.00001
NM_000376.3(VDR):c.148C>T (p.Arg50Ter) rs201106427
NM_000376.3(VDR):c.821G>A (p.Arg274His) rs121909796
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr) rs2140396410
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) rs2140396224
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) rs2140397587
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val) rs2140397019

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