ClinVar Miner

List of variants in gene FAM20C studied for bone disorder

Included ClinVar conditions (1350):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_020223.4(FAM20C):c.1254-63T>C rs36164325 0.61141
NM_020223.4(FAM20C):c.956+61A>G rs146778412 0.56545
NM_020223.4(FAM20C):c.*41C>G rs36138803 0.53518
NM_020223.4(FAM20C):c.1659G>T (p.Val553=) rs36170987 0.52970
NM_020223.4(FAM20C):c.885A>G (p.Thr295=) rs141256626 0.30568
NM_020223.4(FAM20C):c.1363+10G>A rs36156504 0.30098
NM_020223.4(FAM20C):c.*30G>A rs36173075 0.24900
NM_020223.4(FAM20C):c.1749G>A (p.Ala583=) rs143027699 0.06535
NM_020223.4(FAM20C):c.1072+23A>G rs185225273 0.04671
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_020223.4(FAM20C):c.1505+20C>T rs145973343 0.00455
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) rs563226142 0.00273
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu) rs116181849 0.00107
NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val) rs557222235 0.00024
NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp) rs751592577 0.00010
NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys) rs772938056 0.00003
NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp) rs796051850 0.00001
NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg) rs796051875 0.00001
NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser) rs797044462 0.00001
NG_033970.2:g.(8164_21328)_(21408_56449)del
NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg) rs267606795
NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp) rs2115171312
NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu) rs796051852
NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg) rs796051849
NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn) rs2115173146
NM_020223.4(FAM20C):c.1364-2A>G rs796051853
NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys) rs1232400875
NM_020223.4(FAM20C):c.1446-1G>A rs796051855
NM_020223.4(FAM20C):c.1506-55G>A rs36156024
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) rs371584776
NM_020223.4(FAM20C):c.1690A>C (p.Asn564His) rs36139924
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) rs36139924
NM_020223.4(FAM20C):c.474del (p.Ser159fs)
NM_020223.4(FAM20C):c.600G>C (p.Pro200=) rs201631664
NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn) rs796051874
NM_020223.4(FAM20C):c.784+19A>T rs192542992
NM_020223.4(FAM20C):c.838G>A (p.Gly280Arg) rs779708323
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020223.4(FAM20C):c.956+5G>C rs796051854
NM_020223.4(FAM20C):c.957-3C>G rs796051851

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