ClinVar Miner

List of variants reported as likely pathogenic for distal renal tubular acidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
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ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020632.3(ATP6V0A4):c.1478+2T>G rs766587351 0.00004
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) rs782484337 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.349+1G>C
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.1061-1G>T
NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter) rs782151715
NM_001692.4(ATP6V1B1):c.1249-3C>G
NM_001692.4(ATP6V1B1):c.1348C>T (p.Gln450Ter)
NM_001692.4(ATP6V1B1):c.1349del (p.Gln450fs) rs1558681020
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1386C>A (p.Tyr462Ter)
NM_001692.4(ATP6V1B1):c.1404dup (p.Glu469fs)
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.274-2A>G
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001692.4(ATP6V1B1):c.446-1G>A
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) rs1553415274
NM_001692.4(ATP6V1B1):c.687+1G>A
NM_001692.4(ATP6V1B1):c.687G>A (p.Gly229=)
NM_001692.4(ATP6V1B1):c.823A>C (p.Thr275Pro)
NM_001692.4(ATP6V1B1):c.923del (p.Arg308fs)
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys)
NM_001692.4(ATP6V1B1):c.988G>T (p.Glu330Ter)
NM_020632.3(ATP6V0A4):c.1181-1G>A
NM_020632.3(ATP6V0A4):c.1187dup (p.Tyr396Ter)
NM_020632.3(ATP6V0A4):c.1206del (p.Phe403fs)
NM_020632.3(ATP6V0A4):c.1271G>A (p.Trp424Ter)
NM_020632.3(ATP6V0A4):c.1346G>T (p.Arg449Leu)
NM_020632.3(ATP6V0A4):c.1478+2T>A
NM_020632.3(ATP6V0A4):c.1572+2T>C
NM_020632.3(ATP6V0A4):c.1573-1G>T
NM_020632.3(ATP6V0A4):c.1691+2T>G
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.2011-2A>G
NM_020632.3(ATP6V0A4):c.217C>T (p.Gln73Ter)
NM_020632.3(ATP6V0A4):c.221del (p.Asn74fs)
NM_020632.3(ATP6V0A4):c.2336_2346del (p.Phe779fs)
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln) rs2117166318
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.387C>A (p.Tyr129Ter)
NM_020632.3(ATP6V0A4):c.522del (p.Gly175fs)
NM_020632.3(ATP6V0A4):c.671_673delinsAA (p.Ile224fs)
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del) rs746982385
NM_020632.3(ATP6V0A4):c.722+1del
NM_020632.3(ATP6V0A4):c.816_817insA (p.Val273fs)
NM_020632.3(ATP6V0A4):c.952C>T (p.Gln318Ter)
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)

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