List of variants in gene LONP1 studied for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_004793.4(LONP1):c.1896+15T>C	rs4073993	0.65853
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)	rs139554429	0.00321
NM_001276480.1(LONP1):c.-160+1G>A	rs112324623	0.00240
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.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.2282C>T (p.Pro761Leu)	rs373182816	0.00010
NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys)	rs777009012	0.00006
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.1321G>A (p.Glu441Lys)	rs745742429
NM_004793.4(LONP1):c.1892C>A (p.Ser631Tyr)	rs879255248
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met)	rs757666530
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser)	rs879255247
NM_004793.4(LONP1):c.2171C>T (p.Ala724Val)	rs879255249
NM_004793.4(LONP1):c.2353A>G (p.Arg785Gly)	rs730880293
NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)
NM_004793.4(LONP1):c.2815T>C (p.Tyr939His)	rs1599439595
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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