ClinVar Miner

List of variants studied for craniometaphyseal dysplasia, autosomal dominant by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.1001T>G (p.Leu334Arg) rs267606657
NM_054027.6(ANKH):c.1015T>C (p.Cys339Arg) rs267606656
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
NM_054027.6(ANKH):c.1142-4A>G rs1579998709
NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) rs28939080
NM_054027.6(ANKH):c.1172T>C (p.Leu391Pro) rs267606658

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