ClinVar Miner

List of variants in gene PUF60 reported as uncertain significance for 8q24.3 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) rs756399764 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) rs1816390931
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
NM_078480.3(PUF60):c.1381-3_1381-2del
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp) rs2130258570
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
NM_078480.3(PUF60):c.603G>A (p.Lys201=) rs1816591218
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser) rs1439430129
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)

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