ClinVar Miner

List of variants in gene LRPPRC reported as likely benign for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.1736-14G>A rs116117684 0.00552
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) rs113374262 0.00239
NM_133259.4(LRPPRC):c.738-18T>C rs189675905 0.00173
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_133259.4(LRPPRC):c.*1564G>A rs142436911 0.00152
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=) rs373554506 0.00013
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) rs762093225 0.00010
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) rs148828179 0.00006
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943 0.00004
NM_133259.4(LRPPRC):c.*1961T>C rs541683193 0.00003
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) rs187590711 0.00003
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=) rs768509632 0.00002
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=) rs751637061 0.00002
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) rs975809121 0.00002
NM_133259.4(LRPPRC):c.2079+10G>A rs545497810 0.00002
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=) rs765813800 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_133259.4(LRPPRC):c.1488+8C>G rs772715775 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) rs755280196 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=) rs749089358 0.00001
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=) rs1263285909
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=) rs1163183496
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) rs374400665
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser) rs775312269
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) rs746573924
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) rs1572599036
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) rs148494289
NM_133259.4(LRPPRC):c.864+11T>G rs193090896

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