ClinVar Miner

List of variants in gene LRPPRC reported by Counsyl

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Total variants: 67
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HGVS dbSNP
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) rs1553410995
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) rs1553410866
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1369+5G>A rs199628926
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) rs1553408603
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) rs896524026
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839
NM_133259.4(LRPPRC):c.1678-2dup rs1553404545
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005
NM_133259.4(LRPPRC):c.1842+2T>A rs1553404194
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His) rs373011028
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) rs1391434905
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) rs1553403993
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) rs1553403879
NM_133259.4(LRPPRC):c.2080-1G>C rs1553403596
NM_133259.4(LRPPRC):c.2296+1G>A rs1553403303
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) rs746311499
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) rs1301842578
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366
NM_133259.4(LRPPRC):c.2736+1G>T rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T rs1553398334
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) rs1463658772
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) rs1166980943
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) rs1553396232
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) rs1300725076
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766
NM_133259.4(LRPPRC):c.3148+2C>T rs1553396068
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr) rs370537508
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) rs1553391303
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) rs759297611
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522
NM_133259.4(LRPPRC):c.3986-11_3986-8dup rs764564351
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133259.4(LRPPRC):c.4128+1G>A rs1475772376
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter) rs1163476569
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) rs1293234237
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) rs199727887
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) rs1553411751
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup) rs760874906
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) rs774622259
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064

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