ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) rs138799379 0.00007
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp) rs121918401 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NC_000009.12:g.127814980_127830815del
NC_000009.12:g.127814982_127820052del
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) rs1830434079
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1273-2A>T rs373842615
NM_001114753.3(ENG):c.1311+5G>C rs1830423993
NM_001114753.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly) rs372540985
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) rs1830397703
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs) rs1830385549
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro) rs1830384577
NM_001114753.3(ENG):c.1490dup (p.Leu497fs) rs1830384514
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs) rs1554809253
NM_001114753.3(ENG):c.1626del (p.Thr544fs) rs1830377451
NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn) rs1588573831
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu) rs374644720

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