ClinVar Miner

List of variants studied for primary osteolysis by OMIM

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) rs121908094 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018965.4(TREM2):c.482+2T>C rs386834144 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NC_000019.10:g.35905861_35911126del
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732
NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup) rs796051862
NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup) rs886037749
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) rs879253796
NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup) rs1555767678
NM_003860.4(BANF1):c.34G>A (p.Ala12Thr) rs387906871
NM_004530.6(MMP2):c.1199_1201del (p.Val400del) rs2142358692
NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys) rs121912955
NM_004530.6(MMP2):c.1357del (p.Gly454fs) rs1567378779
NM_004530.6(MMP2):c.302G>A (p.Arg101His) rs121912953
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) rs121912954
NM_004995.4(MMP14):c.332G>A (p.Arg111His)
NM_004995.4(MMP14):c.50C>G (p.Thr17Arg) rs587777039
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) rs730880014
NM_005461.5(MAFB):c.184A>C (p.Thr62Pro) rs387907004
NM_005461.5(MAFB):c.208T>G (p.Ser70Ala) rs387907005
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu) rs387907006
NM_005461.5(MAFB):c.211C>T (p.Pro71Ser) rs387907007
NM_005461.5(MAFB):c.212C>T (p.Pro71Leu) rs387907008
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) rs281875376
NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) rs121908095
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs) rs1557802353
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter) rs387906746
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter) rs387906748
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) rs387906747
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) rs1557801639
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) rs387906749
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr) rs121912494
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) rs56673169
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NOTCH2, 1-BP DEL, 6460T

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