ClinVar Miner

List of variants in gene combination ASIC4, GMPPA reported as benign for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.1162+37T>A rs10932808 0.95585
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) rs1046474 0.11761
NM_013335.4(GMPPA):c.1162+18C>T rs111553864 0.03828
NM_013335.4(GMPPA):c.945G>A (p.Glu315=) rs13428617 0.02201
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_013335.4(GMPPA):c.441G>A (p.Thr147=) rs150386940 0.00726
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=) rs146215853 0.00322
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_013335.4(GMPPA):c.489+16G>A rs202131537 0.00085
NM_013335.4(GMPPA):c.366C>G (p.Pro122=) rs186735505 0.00035
NM_013335.4(GMPPA):c.242+19G>A rs201263031 0.00022
NM_013335.4(GMPPA):c.495G>A (p.Leu165=) rs181901772 0.00020

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