ClinVar Miner

List of variants reported as benign for 2-aminoadipic 2-oxoadipic aciduria

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_018706.7(DHTKD1):c.2320-4G>A rs12416681 0.07832
NM_018706.7(DHTKD1):c.951C>T (p.Asn317=) rs3740016 0.07832
NM_018706.7(DHTKD1):c.2048-12G>T rs76263909 0.02794
NM_018706.7(DHTKD1):c.1560C>T (p.Thr520=) rs35537424 0.02598
NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=) rs12769375 0.01095
NM_018706.7(DHTKD1):c.987+10G>C rs142511121 0.00643
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp) rs34716552 0.00493
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu) rs35046964 0.00470
NM_018706.7(DHTKD1):c.2402+10G>C rs139573946 0.00469
NM_018706.7(DHTKD1):c.1756+16T>C rs202188722 0.00284
NM_018706.7(DHTKD1):c.1284G>A (p.Leu428=) rs148613315 0.00235
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=) rs142017323 0.00142
NM_018706.7(DHTKD1):c.234C>T (p.Thr78=) rs138526346 0.00138
NM_018706.7(DHTKD1):c.609C>T (p.His203=) rs12265659 0.00090
NM_018706.7(DHTKD1):c.369T>C (p.Asn123=) rs35638771 0.00084
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=) rs181104203 0.00057
NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=) rs201680688 0.00041
NM_018706.7(DHTKD1):c.1407C>A (p.Gly469=) rs80324702 0.00025
NM_018706.7(DHTKD1):c.2320-5C>T rs369534362 0.00016
NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=) rs141111299 0.00009
NM_018706.7(DHTKD1):c.987+20T>C rs774186618 0.00006
NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile) rs561793789 0.00001
NM_018706.7(DHTKD1):c.1756+22del rs375494996
NM_018706.7(DHTKD1):c.1756+22dup rs375494996
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_018706.7(DHTKD1):c.1911= (p.Pro637=)
NM_018706.7(DHTKD1):c.1938= (p.Phe646=)
NM_018706.7(DHTKD1):c.58= (p.Phe20=)

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