ClinVar Miner

List of variants in gene combination LOC129936056, SUMF1 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter) rs1421066733
NM_182760.4(SUMF1):c.193_205delinsCGG (p.Ala65fs) rs2124822828
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.270+1del rs2079966206

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