ClinVar Miner

Variants in gene PAFAH1B1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_000430.4(PAFAH1B1):c.192+49C>T rs140548168 0.00948
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085 0.00468
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) rs147983048 0.00015
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) rs377583144 0.00014
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=) rs141528563 0.00002

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