ClinVar Miner

List of variants in gene LRP5 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.2234C>T (p.Ala745Val) rs148550774 0.00083
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.3436C>T (p.Arg1146Cys) rs367862196 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.1613G>A (p.Arg538Gln) rs138692892 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.4488+6G>T rs751829465 0.00001
NM_002335.4(LRP5):c.1015G>A (p.Gly339Arg)
NM_002335.4(LRP5):c.1532A>C (p.Asp511Ala)
NM_002335.4(LRP5):c.22C>A (p.Pro8Thr)
NM_002335.4(LRP5):c.2608C>T (p.Arg870Trp) rs769188092
NM_002335.4(LRP5):c.29_37dup (p.Leu12_Leu13insArgProLeu)
NM_002335.4(LRP5):c.3397C>A (p.Leu1133Met)
NM_002335.4(LRP5):c.3683G>C (p.Cys1228Ser) rs2098670820
NM_002335.4(LRP5):c.3985G>A (p.Glu1329Lys)
NM_002335.4(LRP5):c.4078G>A (p.Asp1360Asn)
NM_002335.4(LRP5):c.4441_4445delinsTG (p.Ala1481_Ser1482delinsTrp)

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