List of variants in gene combination LOC130001411, RECQL4 reported as likely benign 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.10C>T (p.Leu4=)	rs878854640	0.00028
NM_004260.4(RECQL4):c.69G>A (p.Gly23=)	rs1034662952	0.00014
NM_004260.4(RECQL4):c.165C>T (p.Ala55=)	rs548309647	0.00008
NM_004260.4(RECQL4):c.186C>T (p.Ser62=)	rs753359759	0.00005
NM_004260.4(RECQL4):c.85-17A>T	rs1008911481	0.00005
NM_004260.4(RECQL4):c.118+14G>T	rs916059603	0.00004
NM_004260.4(RECQL4):c.39G>A (p.Ala13=)	rs778012969	0.00004
NM_004260.4(RECQL4):c.102G>T (p.Ala34=)	rs1043318406	0.00003
NM_004260.4(RECQL4):c.138C>G (p.Arg46=)	rs887031349	0.00003
NM_004260.4(RECQL4):c.85-9C>T	rs751358754	0.00002
NM_004260.4(RECQL4):c.105G>A (p.Pro35=)	rs1303907631	0.00001
NM_004260.4(RECQL4):c.118+8C>T	rs1157702150	0.00001
NM_004260.4(RECQL4):c.118+9G>A	rs1472638346	0.00001
NM_004260.4(RECQL4):c.119-5C>A	rs759011490	0.00001
NM_004260.4(RECQL4):c.123C>T (p.Leu41=)	rs771451032	0.00001
NM_004260.4(RECQL4):c.142C>T (p.Leu48=)	rs1273649766	0.00001
NM_004260.4(RECQL4):c.18C>T (p.Asp6=)	rs1168671636	0.00001
NM_004260.4(RECQL4):c.55C>A (p.Arg19=)	rs1401366375	0.00001
NM_004260.4(RECQL4):c.60G>A (p.Arg20=)	rs1301904200	0.00001
NM_004260.4(RECQL4):c.7C>A (p.Arg3=)	rs886042531	0.00001
NM_004260.4(RECQL4):c.85-4A>T	rs942704068	0.00001
NM_004260.4(RECQL4):c.85-8C>T	rs1315086855	0.00001
NM_004260.4(RECQL4):c.99G>T (p.Ala33=)	rs546842338	0.00001
NM_004260.4(RECQL4):c.105G>C (p.Pro35=)
NM_004260.4(RECQL4):c.108G>A (p.Glu36=)
NM_004260.4(RECQL4):c.114C>G (p.Thr38=)	rs948891282
NM_004260.4(RECQL4):c.114C>T (p.Thr38=)	rs948891282
NM_004260.4(RECQL4):c.118+13C>G
NM_004260.4(RECQL4):c.118+13C>T
NM_004260.4(RECQL4):c.118+13_118+14insGCGGCTGG
NM_004260.4(RECQL4):c.118+17G>A	rs2130743239
NM_004260.4(RECQL4):c.118+17_118+18delinsAG
NM_004260.4(RECQL4):c.118+18C>T
NM_004260.4(RECQL4):c.118+18_118+25del
NM_004260.4(RECQL4):c.118+7G>A
NM_004260.4(RECQL4):c.119-11C>T	rs1278855232
NM_004260.4(RECQL4):c.119-14G>A
NM_004260.4(RECQL4):c.119-15C>G	rs764923707
NM_004260.4(RECQL4):c.119-15C>T
NM_004260.4(RECQL4):c.119-16C>G	rs1355840127
NM_004260.4(RECQL4):c.119-16C>T	rs1355840127
NM_004260.4(RECQL4):c.119-17C>A	rs762801950
NM_004260.4(RECQL4):c.119-17C>G	rs762801950
NM_004260.4(RECQL4):c.119-19C>T
NM_004260.4(RECQL4):c.119-20C>A
NM_004260.4(RECQL4):c.119-20C>T
NM_004260.4(RECQL4):c.119-4G>A	rs1297467065
NM_004260.4(RECQL4):c.119-4G>T	rs1297467065
NM_004260.4(RECQL4):c.119-5C>T
NM_004260.4(RECQL4):c.119-7C>T	rs2130741953
NM_004260.4(RECQL4):c.119-9C>T	rs2130741988
NM_004260.4(RECQL4):c.120G>A (p.Ala40=)
NM_004260.4(RECQL4):c.120G>T (p.Ala40=)
NM_004260.4(RECQL4):c.126C>T (p.Tyr42=)	rs1427556033
NM_004260.4(RECQL4):c.127C>A (p.Arg43=)
NM_004260.4(RECQL4):c.129G>A (p.Arg43=)
NM_004260.4(RECQL4):c.135C>T (p.Tyr45=)	rs1586833765
NM_004260.4(RECQL4):c.141T>C (p.Thr47=)	rs768881967
NM_004260.4(RECQL4):c.147G>A (p.Lys49=)	rs1815360727
NM_004260.4(RECQL4):c.153C>T (p.Thr51=)
NM_004260.4(RECQL4):c.156G>A (p.Thr52=)	rs1399978369
NM_004260.4(RECQL4):c.156G>C (p.Thr52=)	rs1399978369
NM_004260.4(RECQL4):c.15G>A (p.Arg5=)	rs1385976283
NM_004260.4(RECQL4):c.162G>A (p.Gln54=)	rs1815354847
NM_004260.4(RECQL4):c.177C>G (p.Leu59=)	rs764832986
NM_004260.4(RECQL4):c.177C>T (p.Leu59=)	rs764832986
NM_004260.4(RECQL4):c.183C>T (p.Ser61=)	rs530002165
NM_004260.4(RECQL4):c.22C>A (p.Arg8=)	rs1554905170
NM_004260.4(RECQL4):c.24G>T (p.Arg8=)	rs2130746321
NM_004260.4(RECQL4):c.27G>A (p.Glu9=)	rs1554905164
NM_004260.4(RECQL4):c.30G>T (p.Arg10=)	rs1267285154
NM_004260.4(RECQL4):c.33G>A (p.Leu11=)	rs2130746115
NM_004260.4(RECQL4):c.39G>T (p.Ala13=)	rs778012969
NM_004260.4(RECQL4):c.48C>T (p.Arg16=)
NM_004260.4(RECQL4):c.51G>A (p.Ala17=)	rs1586835768
NM_004260.4(RECQL4):c.51G>C (p.Ala17=)	rs1586835768
NM_004260.4(RECQL4):c.54C>T (p.Phe18=)	rs1291744875
NM_004260.4(RECQL4):c.63G>A (p.Gln21=)
NM_004260.4(RECQL4):c.69G>C (p.Gly23=)
NM_004260.4(RECQL4):c.72G>A (p.Arg24=)	rs2130745315
NM_004260.4(RECQL4):c.75A>G (p.Arg25=)	rs1815427635
NM_004260.4(RECQL4):c.78G>T (p.Pro26=)	rs2130745226
NM_004260.4(RECQL4):c.81C>T (p.Ser27=)	rs2130745168
NM_004260.4(RECQL4):c.84+10G>T
NM_004260.4(RECQL4):c.84+11C>T
NM_004260.4(RECQL4):c.84+13C>G
NM_004260.4(RECQL4):c.84+17G>T	rs794726914
NM_004260.4(RECQL4):c.84+18G>A
NM_004260.4(RECQL4):c.84+7G>A
NM_004260.4(RECQL4):c.84+8C>T
NM_004260.4(RECQL4):c.84+9_84+16del	rs2130744877
NM_004260.4(RECQL4):c.85-13G>C	rs568000575
NM_004260.4(RECQL4):c.85-16C>T
NM_004260.4(RECQL4):c.85-17A>C	rs1008911481
NM_004260.4(RECQL4):c.85-18G>A	rs376586915
NM_004260.4(RECQL4):c.85-18G>T
NM_004260.4(RECQL4):c.85-19_85-18delinsCT	rs2130744230
NM_004260.4(RECQL4):c.85-26_85-20del	rs2130744255
NM_004260.4(RECQL4):c.85-4A>G	rs942704068
NM_004260.4(RECQL4):c.85-5T>C	rs1815407702
NM_004260.4(RECQL4):c.85-5T>G	rs1815407702
NM_004260.4(RECQL4):c.85-8C>G
NM_004260.4(RECQL4):c.87C>T (p.Asp29=)	rs2130743879
NM_004260.4(RECQL4):c.90C>T (p.Asp30=)	rs925971380
NM_004260.4(RECQL4):c.9G>A (p.Arg3=)	rs2130746610

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