ClinVar Miner

List of variants in gene LONP1 reported as uncertain significance for bone development disease

Included ClinVar conditions (619):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004793.4(LONP1):c.1817C>T (p.Ala606Val) rs145519500 0.00100
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly) rs144822855 0.00069
NM_004793.4(LONP1):c.1600C>T (p.Arg534Cys) rs150732086 0.00039
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met) rs371606894 0.00019
NM_004793.4(LONP1):c.2542G>A (p.Ala848Thr) rs147591431 0.00019
NM_004793.4(LONP1):c.2203G>A (p.Val735Met) rs200317240 0.00018
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_004793.4(LONP1):c.796C>G (p.Leu266Val) rs373284466 0.00013
NM_004793.4(LONP1):c.788C>T (p.Thr263Ile) rs139791767 0.00011
NM_004793.4(LONP1):c.2482C>T (p.His828Tyr) rs766992987 0.00002
NM_004793.4(LONP1):c.1939G>A (p.Glu647Lys) rs149596661 0.00001
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys) rs752945140 0.00001
NM_004793.4(LONP1):c.2716G>T (p.Gly906Trp) rs775882355 0.00001
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met) rs757666530
NM_004793.4(LONP1):c.2422G>A (p.Glu808Lys)
NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)
NM_004793.4(LONP1):c.488A>C (p.Tyr163Ser) rs2055279214
NM_004793.4(LONP1):c.64_90del (p.Pro22_Arg30del) rs1355376280
NM_004793.4(LONP1):c.889G>A (p.Val297Met) rs1599470758

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