ClinVar Miner

List of variants in gene HDAC8 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: 38
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) rs11093377 0.23437
NM_018486.3(HDAC8):c.438-15C>T rs72630048 0.05226
NM_018486.3(HDAC8):c.57C>T (p.Ile19=) rs145362166 0.00120
NM_018486.3(HDAC8):c.351G>T (p.Gly117=) rs199969298 0.00041
NM_018486.3(HDAC8):c.933G>A (p.Thr311=) rs183108231 0.00030
NM_018486.3(HDAC8):c.295+13C>T rs138424378 0.00018
NM_018486.3(HDAC8):c.164+19A>T rs188536186 0.00016
NM_018486.3(HDAC8):c.1111+9C>T rs368139150 0.00015
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln) rs148688742 0.00015
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg) rs147689487 0.00009
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile) rs200737947 0.00007
NM_018486.3(HDAC8):c.639C>T (p.Asp213=) rs142540077 0.00005
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=) rs146015223 0.00004
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn) rs373083907 0.00003
NM_018486.3(HDAC8):c.372A>G (p.Gln124=) rs141306915 0.00003
NM_018486.3(HDAC8):c.984C>T (p.Ser328=) rs782234700 0.00003
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=) rs782747900 0.00002
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln) rs781862582 0.00002
NM_018486.3(HDAC8):c.111+20A>C rs782224300 0.00002
NM_018486.3(HDAC8):c.1111+16C>T rs1039038766 0.00002
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) rs200093133 0.00002
NM_018486.3(HDAC8):c.516T>A (p.Ile172=) rs61752447 0.00002
NM_018486.3(HDAC8):c.1111+10G>T rs373892213 0.00001
NM_018486.3(HDAC8):c.357G>A (p.Thr119=) rs782021788 0.00001
NM_018486.3(HDAC8):c.438-17A>G rs782753936 0.00001
NM_018486.3(HDAC8):c.910+17G>T rs782676451 0.00001
NM_018486.3(HDAC8):c.1006-4A>G
NM_018486.3(HDAC8):c.112-17del rs3830710
NM_018486.3(HDAC8):c.112-18_112-17dup
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
NM_018486.3(HDAC8):c.911-5G>C
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)

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