ClinVar Miner

List of variants in gene ANKH reported as uncertain significance for chondrocalcinosis 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689

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