ClinVar Miner

List of variants in gene LARGE1 reported by Eurofins NTD LLC (GA)

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) rs147620818 0.00014
NM_133642.5(LARGE1):c.1154A>G (p.Lys385Arg) rs767519400 0.00013
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) rs188675457 0.00006
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) rs398124182 0.00004
NM_133642.5(LARGE1):c.1287+11C>T rs398124183 0.00004
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) rs371071263 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1094G>A (p.Arg365His) rs749284964 0.00001
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter) rs398124181 0.00001
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) rs748508322 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1705A>G (p.Met569Val) rs1208818239 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239

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