ClinVar Miner

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

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val) rs370710427 0.00033
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile) rs138077680 0.00028
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp) rs549821547 0.00011
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile) rs745438072 0.00009
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr) rs151043830 0.00009
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp) rs147832114 0.00005
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys) rs767718283 0.00004
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys) rs753112469 0.00004
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His) rs568570865 0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) rs1251641134 0.00002
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) rs750437487 0.00001
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn) rs1382726525 0.00001
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter) rs748973371
NM_013335.4(GMPPA):c.12G>A (p.Ala4=) rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.