ClinVar Miner

List of variants in gene ANKH, LOC100130744, OTULIN studied for chondrocalcinosis

Included ClinVar conditions (3):
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Gene type:
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Total variants: 11
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NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) rs28939080
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380
NM_054027.6(ANKH):c.1265+6T>C rs114529889
NM_054027.6(ANKH):c.1272C>T (p.His424=) rs201295416
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) rs568804732
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)
NM_054027.6(ANKH):c.1332C>T (p.Val444=) rs139351002
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp)

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