ClinVar Miner

List of variants studied for acidosis disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln) rs140846842 0.00528
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_001098484.3(SLC4A4):c.550+3A>G rs199790542 0.00289
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=) rs114698511 0.00156
NM_001098484.3(SLC4A4):c.807+13T>G rs116455604 0.00154
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) rs200226048 0.00031
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00003
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473

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