ClinVar Miner

List of variants reported as uncertain significance for bone inflammation disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448 0.00005
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val) rs781705610 0.00004
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222 0.00002
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) rs201764329 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr) rs1202378531 0.00001
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155

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