ClinVar Miner

List of variants studied for chondrocalcinosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009

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