ClinVar Miner

List of variants in gene combination HOXA13, LOC107126288 reported as likely benign for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile) rs200676634 0.00010
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_000522.5(HOXA13):c.859G>A (p.Gly287Ser)

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