ClinVar Miner

List of variants in gene LRPPRC reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.*399G>A rs149268737 0.00473
NM_133259.4(LRPPRC):c.149+20C>G rs540850536 0.00451
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_133259.4(LRPPRC):c.66C>T (p.Leu22=) rs769158010 0.00026
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_133259.4(LRPPRC):c.242A>G (p.Asn81Ser) rs748138102 0.00011
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His) rs756849117 0.00007
NM_133259.4(LRPPRC):c.340C>G (p.Arg114Gly) rs376622590 0.00006
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_133259.4(LRPPRC):c.126C>T (p.Ala42=) rs1332820285 0.00001
NM_133259.4(LRPPRC):c.2028A>G (p.Gln676=) rs1309745023 0.00001
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) rs370683872 0.00001
NC_000002.12:g.43996149G>A
NM_133259.4(LRPPRC):c.*1438_*1456dup
NM_133259.4(LRPPRC):c.*1440_*1456dup
NM_133259.4(LRPPRC):c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTT
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1582+1329A>G
NM_133259.4(LRPPRC):c.1936G>T (p.Val646Phe) rs752968314
NM_133259.4(LRPPRC):c.2280G>A (p.Lys760=) rs762970067
NM_133259.4(LRPPRC):c.254G>C (p.Trp85Ser) rs1453934366
NM_133259.4(LRPPRC):c.3279G>A (p.Ala1093=)
NM_133259.4(LRPPRC):c.3323G>T (p.Ser1108Ile) rs1572900944
NM_133259.4(LRPPRC):c.3342A>G (p.Gln1114=) rs1572900912
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732

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