ClinVar Miner

List of variants reported as uncertain significance for bone remodeling disease by Baylor Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met) rs147104235 0.00047
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn) rs372701023 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000067.3(CA2):c.311G>T (p.Gly104Val) rs760867064 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) rs1906769403
NM_000088.4(COL1A1):c.3207+3A>G rs1906755287
NM_000127.3(EXT1):c.197T>C (p.Val66Ala) rs1242925512
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys) rs202090603
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_152424.4(AMER1):c.1305C>G (p.Gly435=) rs761740157
NM_152424.4(AMER1):c.2363G>A (p.Cys788Tyr) rs1269339307
NM_152424.4(AMER1):c.3328T>A (p.Ser1110Thr) rs1930205301
NM_152424.4(AMER1):c.71C>T (p.Thr24Ile) rs1930297677
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)

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