ClinVar Miner

List of variants reported as uncertain significance for primary Fanconi syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) rs771955031 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881

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