ClinVar Miner

List of variants in gene combination LOC130001411, RECQL4 reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys) rs1035057882 0.00040
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) rs979012066 0.00030
NM_004260.4(RECQL4):c.92T>G (p.Val31Gly) rs904809747 0.00015
NM_004260.4(RECQL4):c.175C>T (p.Leu59Phe) rs752508496 0.00006
NM_004260.4(RECQL4):c.16G>A (p.Asp6Asn) rs1009265867 0.00004
NM_004260.4(RECQL4):c.145A>C (p.Lys49Gln) rs1046890336 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.7C>T (p.Arg3Trp) rs886042531 0.00003
NM_004260.4(RECQL4):c.118+4A>G rs775068771 0.00002
NM_004260.4(RECQL4):c.134A>T (p.Tyr45Phe) rs748521485 0.00002
NM_004260.4(RECQL4):c.149G>A (p.Arg50His) rs551963857 0.00002
NM_004260.4(RECQL4):c.166G>A (p.Gly56Ser) rs777837612 0.00002
NM_004260.4(RECQL4):c.29G>A (p.Arg10Gln) rs1001894022 0.00002
NM_004260.4(RECQL4):c.2T>G (p.Met1Arg) rs1815451689 0.00002
NM_004260.4(RECQL4):c.56G>A (p.Arg19Gln) rs1231840928 0.00002
NM_004260.4(RECQL4):c.109G>A (p.Glu37Lys) rs1395545206 0.00001
NM_004260.4(RECQL4):c.121C>T (p.Leu41Phe) rs776083037 0.00001
NM_004260.4(RECQL4):c.125A>G (p.Tyr42Cys) rs1416508252 0.00001
NM_004260.4(RECQL4):c.127C>T (p.Arg43Trp) rs761113605 0.00001
NM_004260.4(RECQL4):c.128G>C (p.Arg43Pro) rs1169021603 0.00001
NM_004260.4(RECQL4):c.136C>A (p.Arg46Ser) rs1268307700 0.00001
NM_004260.4(RECQL4):c.13C>T (p.Arg5Trp) rs557142503 0.00001
NM_004260.4(RECQL4):c.146A>G (p.Lys49Arg) rs1432766447 0.00001
NM_004260.4(RECQL4):c.14G>A (p.Arg5Gln) rs1815447241 0.00001
NM_004260.4(RECQL4):c.169G>A (p.Gly57Ser) rs1060501373 0.00001
NM_004260.4(RECQL4):c.172G>A (p.Gly58Arg) rs1815352345 0.00001
NM_004260.4(RECQL4):c.179G>A (p.Arg60His) rs1060501374 0.00001
NM_004260.4(RECQL4):c.1A>C (p.Met1Leu) rs964623569 0.00001
NM_004260.4(RECQL4):c.23G>C (p.Arg8Pro) rs896245546 0.00001
NM_004260.4(RECQL4):c.28C>T (p.Arg10Trp) rs757678397 0.00001
NM_004260.4(RECQL4):c.35A>G (p.Gln12Arg) rs905077826 0.00001
NM_004260.4(RECQL4):c.38C>T (p.Ala13Val) rs1489214833 0.00001
NM_004260.4(RECQL4):c.46C>A (p.Arg16Ser) rs1166338293 0.00001
NM_004260.4(RECQL4):c.52T>C (p.Phe18Leu) rs941281893 0.00001
NM_004260.4(RECQL4):c.59G>C (p.Arg20Pro) rs990552711 0.00001
NM_004260.4(RECQL4):c.64C>T (p.Arg22Cys) rs960379510 0.00001
NM_004260.4(RECQL4):c.70C>T (p.Arg24Trp) rs1586835635 0.00001
NM_004260.4(RECQL4):c.85-3C>G rs1053090518 0.00001
NM_004260.4(RECQL4):c.85-6T>A rs1815408102 0.00001
NM_004260.4(RECQL4):c.88G>A (p.Asp30Asn) rs934908599 0.00001
NC_000008.10:g.(?_145742976)_(145743178_?)dup
NM_004260.4(RECQL4):c.-1C>T rs2538135552
NM_004260.4(RECQL4):c.101C>T (p.Ala34Val) rs2130743694
NM_004260.4(RECQL4):c.103C>G (p.Pro35Ala) rs1304842985
NM_004260.4(RECQL4):c.104C>G (p.Pro35Arg) rs2538129384
NM_004260.4(RECQL4):c.106G>A (p.Glu36Lys) rs1815402122
NM_004260.4(RECQL4):c.106G>C (p.Glu36Gln) rs1815402122
NM_004260.4(RECQL4):c.106GAG[1] (p.Glu37del) rs1239043035
NM_004260.4(RECQL4):c.112A>C (p.Thr38Pro) rs2538129116
NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn) rs1348040384
NM_004260.4(RECQL4):c.113C>G (p.Thr38Ser) rs1348040384
NM_004260.4(RECQL4):c.115C>A (p.Arg39Ser) rs1815399959
NM_004260.4(RECQL4):c.116G>A (p.Arg39His) rs1815399637
NM_004260.4(RECQL4):c.116G>T (p.Arg39Leu) rs1815399637
NM_004260.4(RECQL4):c.118+16G>A rs1315512997
NM_004260.4(RECQL4):c.118+3G>A rs1815398834
NM_004260.4(RECQL4):c.118+3G>T rs1815398834
NM_004260.4(RECQL4):c.118+4A>C rs775068771
NM_004260.4(RECQL4):c.118+6C>G rs1343975009
NM_004260.4(RECQL4):c.118G>A (p.Ala40Thr) rs2538128894
NM_004260.4(RECQL4):c.119C>T (p.Ala40Val) rs1320945281
NM_004260.4(RECQL4):c.121C>A (p.Leu41Ile) rs776083037
NM_004260.4(RECQL4):c.122T>C (p.Leu41Pro) rs1259365630
NM_004260.4(RECQL4):c.124T>C (p.Tyr42His) rs2538124704
NM_004260.4(RECQL4):c.128G>A (p.Arg43Gln) rs1169021603
NM_004260.4(RECQL4):c.128G>T (p.Arg43Leu) rs1169021603
NM_004260.4(RECQL4):c.134A>G (p.Tyr45Cys) rs748521485
NM_004260.4(RECQL4):c.136C>G (p.Arg46Gly) rs1268307700
NM_004260.4(RECQL4):c.136C>T (p.Arg46Cys) rs1268307700
NM_004260.4(RECQL4):c.139A>T (p.Thr47Ser) rs779041769
NM_004260.4(RECQL4):c.142C>G (p.Leu48Val) rs1273649766
NM_004260.4(RECQL4):c.147G>C (p.Lys49Asn) rs1815360727
NM_004260.4(RECQL4):c.148C>T (p.Arg50Cys) rs1325079305
NM_004260.4(RECQL4):c.14G>T (p.Arg5Leu) rs1815447241
NM_004260.4(RECQL4):c.14_34del (p.Arg5_Leu11del) rs1445577376
NM_004260.4(RECQL4):c.14_34dup (p.Arg5_Leu11dup) rs1445577376
NM_004260.4(RECQL4):c.152C>T (p.Thr51Ile) rs1308346776
NM_004260.4(RECQL4):c.155C>T (p.Thr52Met) rs878854641
NM_004260.4(RECQL4):c.157G>A (p.Gly53Ser) rs1171989536
NM_004260.4(RECQL4):c.158G>C (p.Gly53Ala) rs1381844543
NM_004260.4(RECQL4):c.158G>T (p.Gly53Val) rs1381844543
NM_004260.4(RECQL4):c.161A>C (p.Gln54Pro) rs35198096
NM_004260.4(RECQL4):c.162G>T (p.Gln54His) rs1815354847
NM_004260.4(RECQL4):c.163_164delinsTT (p.Ala55Phe) rs1815354359
NM_004260.4(RECQL4):c.166G>T (p.Gly56Cys) rs777837612
NM_004260.4(RECQL4):c.16G>T (p.Asp6Tyr) rs1009265867
NM_004260.4(RECQL4):c.170G>A (p.Gly57Asp) rs2538122819
NM_004260.4(RECQL4):c.173G>A (p.Gly58Glu) rs1008942429
NM_004260.4(RECQL4):c.173G>C (p.Gly58Ala) rs1008942429
NM_004260.4(RECQL4):c.175C>A (p.Leu59Ile) rs752508496
NM_004260.4(RECQL4):c.176T>C (p.Leu59Pro) rs1815350597
NM_004260.4(RECQL4):c.178C>T (p.Arg60Cys) rs2538122378
NM_004260.4(RECQL4):c.179G>C (p.Arg60Pro) rs1060501374
NM_004260.4(RECQL4):c.179G>T (p.Arg60Leu) rs1060501374
NM_004260.4(RECQL4):c.17A>T (p.Asp6Val) rs1815445943
NM_004260.4(RECQL4):c.181A>G (p.Ser61Gly) rs2538122297
NM_004260.4(RECQL4):c.182G>A (p.Ser61Asn) rs1815349306
NM_004260.4(RECQL4):c.183C>A (p.Ser61Arg) rs530002165
NM_004260.4(RECQL4):c.185C>T (p.Ser62Phe) rs1815348340
NM_004260.4(RECQL4):c.187G>A (p.Glu63Lys) rs1815347526
NM_004260.4(RECQL4):c.187_188delinsTT (p.Glu63Leu) rs2538122022
NM_004260.4(RECQL4):c.18_26dup (p.Asp6_Arg8dup) rs1554905167
NM_004260.4(RECQL4):c.22C>G (p.Arg8Gly) rs1554905170
NM_004260.4(RECQL4):c.22C>T (p.Arg8Trp) rs1554905170
NM_004260.4(RECQL4):c.23G>A (p.Arg8Gln) rs896245546
NM_004260.4(RECQL4):c.25G>C (p.Glu9Gln)
NM_004260.4(RECQL4):c.28C>G (p.Arg10Gly) rs757678397
NM_004260.4(RECQL4):c.2T>C (p.Met1Thr) rs1815451689
NM_004260.4(RECQL4):c.32T>A (p.Leu11Gln) rs1815439152
NM_004260.4(RECQL4):c.34C>G (p.Gln12Glu) rs2130746066
NM_004260.4(RECQL4):c.36G>C (p.Gln12His) rs2538134118
NM_004260.4(RECQL4):c.37G>C (p.Ala13Pro) rs747356389
NM_004260.4(RECQL4):c.37G>T (p.Ala13Ser) rs747356389
NM_004260.4(RECQL4):c.3G>A (p.Met1Ile) rs1815451127
NM_004260.4(RECQL4):c.3G>T (p.Met1Ile) rs1815451127
NM_004260.4(RECQL4):c.40T>C (p.Trp14Arg) rs758579262
NM_004260.4(RECQL4):c.40T>G (p.Trp14Gly) rs758579262
NM_004260.4(RECQL4):c.43G>A (p.Glu15Lys) rs1476550062
NM_004260.4(RECQL4):c.47G>A (p.Arg16His) rs1483243361
NM_004260.4(RECQL4):c.49G>A (p.Ala17Thr) rs2538133699
NM_004260.4(RECQL4):c.4G>C (p.Glu2Gln) rs2538135445
NM_004260.4(RECQL4):c.50C>T (p.Ala17Val) rs1815433589
NM_004260.4(RECQL4):c.53T>C (p.Phe18Ser) rs2130745700
NM_004260.4(RECQL4):c.55C>G (p.Arg19Gly) rs1401366375
NM_004260.4(RECQL4):c.56G>T (p.Arg19Leu) rs1231840928
NM_004260.4(RECQL4):c.58C>T (p.Arg20Trp) rs1564812906
NM_004260.4(RECQL4):c.59G>A (p.Arg20Gln) rs990552711
NM_004260.4(RECQL4):c.5A>G (p.Glu2Gly) rs2130746663
NM_004260.4(RECQL4):c.62A>G (p.Gln21Arg) rs2130745502
NM_004260.4(RECQL4):c.65G>A (p.Arg22His) rs2130745435
NM_004260.4(RECQL4):c.68G>T (p.Gly23Val) rs1815429028
NM_004260.4(RECQL4):c.71G>A (p.Arg24Gln) rs1296633763
NM_004260.4(RECQL4):c.76C>G (p.Pro26Ala) rs2130745257
NM_004260.4(RECQL4):c.76C>T (p.Pro26Ser) rs2130745257
NM_004260.4(RECQL4):c.77C>G (p.Pro26Arg) rs1815427295
NM_004260.4(RECQL4):c.79A>G (p.Ser27Gly) rs1815426930
NM_004260.4(RECQL4):c.7C>G (p.Arg3Gly) rs886042531
NM_004260.4(RECQL4):c.80G>A (p.Ser27Asn) rs1815426587
NM_004260.4(RECQL4):c.82C>A (p.Gln28Lys) rs794726912
NM_004260.4(RECQL4):c.82C>G (p.Gln28Glu) rs794726912
NM_004260.4(RECQL4):c.83A>G (p.Gln28Arg)
NM_004260.4(RECQL4):c.84+13_84+20del rs1212849717
NM_004260.4(RECQL4):c.84+16G>A rs983783162
NM_004260.4(RECQL4):c.84+20_84+27del
NM_004260.4(RECQL4):c.84+2dup rs2538132301
NM_004260.4(RECQL4):c.84+4C>A rs1409394032
NM_004260.4(RECQL4):c.84+5G>A rs1060501367
NM_004260.4(RECQL4):c.84+5G>C rs1060501367
NM_004260.4(RECQL4):c.84+5G>T rs1060501367
NM_004260.4(RECQL4):c.84G>A (p.Gln28=) rs1586835584
NM_004260.4(RECQL4):c.84G>C (p.Gln28His) rs1586835584
NM_004260.4(RECQL4):c.85-17A>G rs1008911481
NM_004260.4(RECQL4):c.85-21_85-12del rs2130744106
NM_004260.4(RECQL4):c.85-26_85-20dup rs2130744255
NM_004260.4(RECQL4):c.85-9C>G rs751358754
NM_004260.4(RECQL4):c.86A>G (p.Asp29Gly) rs2538130001
NM_004260.4(RECQL4):c.88G>C (p.Asp30His) rs934908599
NM_004260.4(RECQL4):c.89A>G (p.Asp30Gly) rs2538129846
NM_004260.4(RECQL4):c.8G>A (p.Arg3Gln) rs979012066
NM_004260.4(RECQL4):c.8_10dup (p.Arg3_Leu4insArg) rs2538135229
NM_004260.4(RECQL4):c.92T>C (p.Val31Ala) rs904809747
NM_004260.4(RECQL4):c.94G>C (p.Glu32Gln) rs1815404112
NM_004260.4(RECQL4):c.98C>T (p.Ala33Val) rs2130743732

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