ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001114753.3(ENG):c.1273-4G>A rs373308042 0.00005
NM_001114753.3(ENG):c.1671C>T (p.Thr557=) rs369135742 0.00003
NM_001114753.3(ENG):c.1687-7C>T rs756527693 0.00001
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs)
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs)

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