ClinVar Miner

List of variants studied for nutritional disorder by Breda Genetics srl

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945

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