ClinVar Miner

List of variants studied for autosomal dominant brachyolmia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021625.5(TRPV4):c.1667A>C (p.Tyr556Ser)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144

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