ClinVar Miner

List of variants reported as likely pathogenic for bone remodeling disease by Invitae

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NC_000008.10:g.(?_118831895)_(118834856_?)del
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1165-2A>G
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro) rs1817879832
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser) rs1817876107
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg) rs1817867776
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
NM_003900.5(SQSTM1):c.205+2T>C
NM_003900.5(SQSTM1):c.206-2A>G
NM_003900.5(SQSTM1):c.970-2A>G rs2113512370
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) rs1590667793
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) rs2134984829

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