ClinVar Miner

List of variants studied for bone disorder by Bicknell laboratory, University of Otago

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001257096.2(PAX1):c.1154_1157dup (p.Tyr386Ter) rs2122139711
NM_001369268.1(ACAN):c.736T>G (p.Cys246Gly) rs2141572254
NM_001429.3:c.4271_4367del
NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe) rs754506713

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