ClinVar Miner

List of variants in gene LOC130060311, TTC19 studied for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017775.4(TTC19):c.-15G>A rs73276080 0.03466
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu) rs537063695 0.00141
NM_017775.4(TTC19):c.-1C>T rs2302414 0.00128
NM_017775.4(TTC19):c.122A>G (p.Gln41Arg) rs1462593526 0.00120
NM_017775.4(TTC19):c.7C>T (p.Arg3Trp) rs756830714 0.00003
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017775.4(TTC19):c.200C>T (p.Ser67Leu) rs1198487870 0.00001
NM_017775.4(TTC19):c.25C>T (p.Leu9=) rs568088809 0.00001
NM_017775.4(TTC19):c.155G>A (p.Arg52Gln) rs886052626
NM_017775.4(TTC19):c.184+1G>A

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