ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000430.3(PAFAH1B1):c.117_117+2delGGT rs1064796229
NM_000430.4(PAFAH1B1):c.117+5G>C rs1555526248
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.33-1G>C rs1057521243

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