ClinVar Miner

List of variants in gene combination C1orf105, PIGC reported as likely pathogenic by SIB Swiss Institute of Bioinformatics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614

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