ClinVar Miner

List of variants in gene PAFAH1B1 reported by Eurofins NTD LLC (GA)

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.*17C>T rs6628 0.20094
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
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.958A>G (p.Ile320Val) rs144659773 0.00013
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) rs374766360 0.00002
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555 0.00002
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn) rs767670214
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn) rs1555526698
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292

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