ClinVar Miner

List of variants studied for disorder of metabolite absorption and transport by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) rs371271054 0.00001
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu) rs1234971496
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs) rs2078084722
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2356-16del rs1257703465
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs) rs1952018459
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000701.8(ATP1A1):c.12+727T>A rs1199382060
NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp) rs1436880886
NM_001963.6(EGF):c.803C>A (p.Thr268Lys) rs1742618428
NM_017649.5(CNNM2):c.1621+21dup rs1845563839
NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser) rs748696153
NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser) rs1845519788
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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