ClinVar Miner

List of variants in gene FAM20C reported as benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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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.1740C>T (p.Ala580=) rs563226142 0.00273
NM_020223.4(FAM20C):c.1506-55G>A rs36156024
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) rs36139924
NM_020223.4(FAM20C):c.953_956+30dup rs771282640

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