List of variants reported by Bristol Genetics Laboratory, North Bristol NHS Trust

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_078480.3(PUF60):c.475G>A (p.Asp159Asn)	rs1085307137	0.00001
NM_000719.7(CACNA1C):c.4417G>C (p.Ala1473Pro)	rs2153709491
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu)	rs1158292126
NM_078480.3(PUF60):c.1008+1G>A	rs1085307138
NM_078480.3(PUF60):c.1094dup (p.Thr366fs)	rs1085307139
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_078480.3(PUF60):c.1472G>A (p.Gly491Glu)	rs1085307134
NM_078480.3(PUF60):c.1577_1587del (p.His526fs)	rs1554641549
NM_078480.3(PUF60):c.24+1G>A	rs1064795388
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)	rs1085307135
NM_078480.3(PUF60):c.604-2A>C	rs1554643168
NM_078480.3(PUF60):c.604-2A>G	rs1554643168
NM_078480.3(PUF60):c.619_637del (p.Asn207fs)	rs1554643142
NM_078480.3(PUF60):c.931_932insAAAA (p.Thr311fs)	rs1085307132

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