ClinVar Miner

List of variants in gene PAFAH1B1 reported as benign by Invitae

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614 0.01444
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085 0.00468
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.608A>G (p.Asn203Ser) rs377583144 0.00014
NM_000430.4(PAFAH1B1):c.1159+8C>T rs199672477 0.00008
NM_000430.4(PAFAH1B1):c.483C>T (p.Ser161=) rs532943486 0.00002
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=) rs141528563 0.00002
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000430.4(PAFAH1B1):c.787G>A (p.Val263Ile) rs769869336 0.00001
NM_000430.4(PAFAH1B1):c.1003-10dup
NM_000430.4(PAFAH1B1):c.1003-4del
NM_000430.4(PAFAH1B1):c.338G>A (p.Arg113Gln)
NM_000430.4(PAFAH1B1):c.343A>G (p.Ile115Val) rs1389070949
NM_000430.4(PAFAH1B1):c.399+5T>C rs749488964
NM_000430.4(PAFAH1B1):c.568+8del rs753373988
NM_000430.4(PAFAH1B1):c.671+9G>C

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