ClinVar Miner

List of variants reported as likely benign for amino acid metabolism disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_015629.4(PRPF31):c.527+9G>T rs376994481

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