ClinVar Miner

List of variants reported as likely pathogenic by Bristol Genetics Laboratory - North Bristol NHS Trust,Southmead Hospital - Pathology Sciences

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Total variants: 12
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HGVS dbSNP
NM_078480.2(PUF60):c.1008+1G>A rs1085307138
NM_078480.2(PUF60):c.1094dup (p.Thr366Hisfs) rs1085307139
NM_078480.2(PUF60):c.1381-2A>G rs1057518681
NM_078480.2(PUF60):c.1472G>A (p.Gly491Glu) rs1085307134
NM_078480.2(PUF60):c.1577_1587del (p.His526Profs) rs1554641549
NM_078480.2(PUF60):c.24+1G>A rs1064795388
NM_078480.2(PUF60):c.475G>A (p.Asp159Asn) rs1085307137
NM_078480.2(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.2(PUF60):c.604-2A>C rs1554643168
NM_078480.2(PUF60):c.604-2A>G rs1554643168
NM_078480.2(PUF60):c.619_637del (p.Asn207Profs) rs1554643142
NM_078480.2(PUF60):c.931_932insAAAA (p.Thr311Lysfs) rs1085307132

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