ClinVar Miner

List of variants in gene SLC17A5 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.*1565C>T rs543558815 0.00164
NM_012434.5(SLC17A5):c.*1155T>A rs921762676 0.00149
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_012434.5(SLC17A5):c.*1533A>G rs530389010 0.00078
NM_012434.5(SLC17A5):c.*762C>T rs768718508 0.00044
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_012434.5(SLC17A5):c.*174G>C rs575300701 0.00038
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_012434.5(SLC17A5):c.*550G>A rs538417413 0.00032
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_012434.5(SLC17A5):c.*1692G>A rs540786941 0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.*1696T>C rs886061724 0.00004
NM_012434.5(SLC17A5):c.*373G>A rs886061734 0.00004
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val) rs374771372 0.00003
NM_012434.5(SLC17A5):c.*1566G>A rs886061726 0.00002
NM_012434.5(SLC17A5):c.*1206G>A rs1239251189 0.00001
NM_012434.5(SLC17A5):c.*1450G>A rs886061727 0.00001
NM_012434.5(SLC17A5):c.*478C>T rs886061733 0.00001
NM_012434.5(SLC17A5):c.*488G>A rs1216079110 0.00001
NM_012434.5(SLC17A5):c.*587C>T rs1303568875 0.00001
NM_012434.5(SLC17A5):c.*817G>A rs886061731 0.00001
NM_012434.5(SLC17A5):c.*837C>T rs886061730 0.00001
NM_012434.5(SLC17A5):c.*901C>T rs886061729 0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser) rs149233119 0.00001
NM_012434.5(SLC17A5):c.*1056A>G rs938117850
NM_012434.5(SLC17A5):c.*1332T>A rs886061728
NM_012434.5(SLC17A5):c.*501G>A rs933119464
NM_012434.5(SLC17A5):c.*595C>G rs540399289
NM_012434.5(SLC17A5):c.*666C>T rs886061732
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr) rs1767808770
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) rs372195490
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly) rs886061735
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu) rs386833993
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534

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