ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.*129C>T rs3019 0.93964
NM_012210.4(TRIM32):c.*1206T>C rs2281627 0.28741
NM_012210.4(TRIM32):c.-133G>C rs12342207 0.27173
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_012210.4(TRIM32):c.*589G>A rs16933835 0.01666
NM_012210.4(TRIM32):c.*845C>T rs111309723 0.01665
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00086
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002

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