ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
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.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.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.2028A>G (p.Gln676=) rs1309745023 0.00001
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) rs370683872 0.00001
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.2280G>A (p.Lys760=) rs762970067
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732

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