ClinVar Miner

List of variants studied for nutritional disorder by Suma Genomics, Suma Genomics

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) rs2140397164
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481

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