ClinVar Miner

List of variants studied for autosomal recessive proximal renal tubular acidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
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_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_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val) rs138493429 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_001098484.3(SLC4A4):c.511A>G (p.Met171Val) rs139851720 0.00014
NM_003759.4(SLC4A4):c.31A>G (p.Ser11Gly) rs545021444 0.00011
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys) rs201133749 0.00003
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met) rs748205618 0.00001
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00001
NM_001098484.3(SLC4A4):c.*206G>A
NM_001098484.3(SLC4A4):c.*26G>T rs200777620
NM_001098484.3(SLC4A4):c.1096C>A (p.Leu366Met)
NM_001098484.3(SLC4A4):c.1208+4A>C
NM_001098484.3(SLC4A4):c.1209-14G>A
NM_001098484.3(SLC4A4):c.1226G>C (p.Gly409Ala)
NM_001098484.3(SLC4A4):c.1238T>C (p.Val413Ala)
NM_001098484.3(SLC4A4):c.1262A>G (p.His421Arg)
NM_001098484.3(SLC4A4):c.1287A>T (p.Gly429=)
NM_001098484.3(SLC4A4):c.1289A>G (p.His430Arg)
NM_001098484.3(SLC4A4):c.1318G>A (p.Gly440Arg)
NM_001098484.3(SLC4A4):c.1321C>A (p.Arg441=)
NM_001098484.3(SLC4A4):c.1321C>T (p.Arg441Trp)
NM_001098484.3(SLC4A4):c.1322+5C>T
NM_001098484.3(SLC4A4):c.1360G>A (p.Ala454Thr)
NM_001098484.3(SLC4A4):c.1481C>T (p.Ala494Val)
NM_001098484.3(SLC4A4):c.1500C>T (p.Gly500=)
NM_001098484.3(SLC4A4):c.1579del (p.Ser527fs)
NM_001098484.3(SLC4A4):c.1588G>A (p.Gly530Arg)
NM_001098484.3(SLC4A4):c.160A>T (p.Lys54Ter)
NM_001098484.3(SLC4A4):c.1635C>A (p.Asp545Glu)
NM_001098484.3(SLC4A4):c.1757A>G (p.Glu586Gly)
NM_001098484.3(SLC4A4):c.1768T>A (p.Ser590Thr)
NM_001098484.3(SLC4A4):c.1813A>T (p.Ile605Phe)
NM_001098484.3(SLC4A4):c.1815C>G (p.Ile605Met)
NM_001098484.3(SLC4A4):c.1818G>A (p.Lys606=)
NM_001098484.3(SLC4A4):c.1834C>T (p.Pro612Ser)
NM_001098484.3(SLC4A4):c.1860C>T (p.Gly620=)
NM_001098484.3(SLC4A4):c.1865A>G (p.Asn622Ser)
NM_001098484.3(SLC4A4):c.1899C>T (p.Asp633=)
NM_001098484.3(SLC4A4):c.1903+17T>G
NM_001098484.3(SLC4A4):c.1903+2T>A
NM_001098484.3(SLC4A4):c.194C>T (p.Ser65Phe)
NM_001098484.3(SLC4A4):c.1999G>A (p.Ala667Thr)
NM_001098484.3(SLC4A4):c.2047G>A (p.Gly683Arg)
NM_001098484.3(SLC4A4):c.2054A>G (p.Asn685Ser)
NM_001098484.3(SLC4A4):c.2060A>G (p.Asn687Ser)
NM_001098484.3(SLC4A4):c.2063T>C (p.Phe688Ser)
NM_001098484.3(SLC4A4):c.2075T>G (p.Ile692Ser)
NM_001098484.3(SLC4A4):c.2149C>T (p.Pro717Ser)
NM_001098484.3(SLC4A4):c.2231C>T (p.Ala744Val)
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_001098484.3(SLC4A4):c.2241C>T (p.Gly747=)
NM_001098484.3(SLC4A4):c.2242G>A (p.Val748Met)
NM_001098484.3(SLC4A4):c.2308G>T (p.Val770Phe)
NM_001098484.3(SLC4A4):c.2315C>T (p.Pro772Leu)
NM_001098484.3(SLC4A4):c.2377A>C (p.Ile793Leu)
NM_001098484.3(SLC4A4):c.2416G>A (p.Val806Ile)
NM_001098484.3(SLC4A4):c.2449G>A (p.Ala817Thr)
NM_001098484.3(SLC4A4):c.2494A>G (p.Ile832Val)
NM_001098484.3(SLC4A4):c.2534C>T (p.Thr845Met)
NM_001098484.3(SLC4A4):c.2557G>A (p.Asp853Asn)
NM_001098484.3(SLC4A4):c.259C>T (p.Pro87Ser)
NM_001098484.3(SLC4A4):c.2695-15T>G
NM_001098484.3(SLC4A4):c.270A>T (p.Glu90Asp)
NM_001098484.3(SLC4A4):c.271C>T (p.Arg91Cys)
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400
NM_001098484.3(SLC4A4):c.277C>T (p.Arg93Ter)
NM_001098484.3(SLC4A4):c.2790G>C (p.Leu930=)
NM_001098484.3(SLC4A4):c.2842C>T (p.Arg948Cys)
NM_001098484.3(SLC4A4):c.2881C>G (p.Leu961Val)
NM_001098484.3(SLC4A4):c.2899C>T (p.Leu967Phe)
NM_001098484.3(SLC4A4):c.3064AAG[2] (p.Lys1024del)
NM_001098484.3(SLC4A4):c.3091A>T (p.Asn1031Tyr)
NM_001098484.3(SLC4A4):c.3100-18T>G
NM_001098484.3(SLC4A4):c.3119A>C (p.Glu1040Ala)
NM_001098484.3(SLC4A4):c.313C>G (p.Pro105Ala)
NM_001098484.3(SLC4A4):c.3167C>T (p.Pro1056Leu)
NM_001098484.3(SLC4A4):c.317C>A (p.Pro106His)
NM_001098484.3(SLC4A4):c.3187C>A (p.Pro1063Thr)
NM_001098484.3(SLC4A4):c.3204A>T (p.Arg1068Ser)
NM_001098484.3(SLC4A4):c.3212C>A (p.Thr1071Lys)
NM_001098484.3(SLC4A4):c.3217C>T (p.Leu1073Phe)
NM_001098484.3(SLC4A4):c.3223C>T (p.Arg1075Cys)
NM_001098484.3(SLC4A4):c.362A>G (p.Gln121Arg)
NM_001098484.3(SLC4A4):c.389+6G>T
NM_001098484.3(SLC4A4):c.509T>C (p.Ile170Thr)
NM_001098484.3(SLC4A4):c.535C>G (p.Leu179Val)
NM_001098484.3(SLC4A4):c.565C>T (p.His189Tyr)
NM_001098484.3(SLC4A4):c.598C>T (p.Leu200Phe)
NM_001098484.3(SLC4A4):c.698G>A (p.Ser233Asn)
NM_001098484.3(SLC4A4):c.722C>T (p.Pro241Leu)
NM_001098484.3(SLC4A4):c.72A>G (p.Glu24=)
NM_001098484.3(SLC4A4):c.730+6G>T
NM_001098484.3(SLC4A4):c.731G>A (p.Gly244Asp)
NM_001098484.3(SLC4A4):c.74-5C>G
NM_001098484.3(SLC4A4):c.770G>T (p.Ser257Ile)
NM_001098484.3(SLC4A4):c.794C>T (p.Pro265Leu)
NM_001098484.3(SLC4A4):c.839G>A (p.Arg280His)
NM_001098484.3(SLC4A4):c.853del (p.Ser285fs)
NM_001098484.3(SLC4A4):c.898A>G (p.Ile300Val)
NM_001098484.3(SLC4A4):c.979C>T (p.Leu327Phe)
NM_003759.4(SLC4A4):c.41G>A (p.Gly14Glu)
NM_003759.4(SLC4A4):c.55G>T (p.Ala19Ser)
NM_003759.4(SLC4A4):c.59G>A (p.Arg20Gln)

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