ClinVar Miner

List of variants in gene AIP reported as benign for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_003977.4(AIP):c.*64G>A rs115346238 0.00596
NM_003977.4(AIP):c.*60G>C rs146014363 0.00566
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_003977.4(AIP):c.-84C>G rs540839310 0.00086
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003977.4(AIP):c.-23A>G rs200665479 0.00064
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 0.00002
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001

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