ClinVar Miner

List of variants reported as likely pathogenic for bone neoplasm by Invitae

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 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_004364.5(CEBPA):c.890G>C (p.Arg297Pro) rs1600021258
NM_005373.3(MPL):c.1165+1G>C rs775550081
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C rs1057517761
NM_005373.3(MPL):c.1469-1G>T rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.212+1G>A rs142565191
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.305G>A (p.Arg102His) rs28928907
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.690+2T>A rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T rs1647004958
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.980+2T>A rs1647023010
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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