ClinVar Miner

List of variants in gene SLC45A2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_016180.5(SLC45A2):c.902T>C (p.Met301Thr) rs572849798 0.00011
NM_016180.5(SLC45A2):c.1379C>T (p.Ala460Val) rs748573899 0.00006
NM_016180.5(SLC45A2):c.1378G>A (p.Ala460Thr) rs756576808 0.00002
NM_016180.5(SLC45A2):c.1528A>G (p.Thr510Ala) rs567138411 0.00002
NM_016180.5(SLC45A2):c.191G>A (p.Gly64Asp) rs757331566 0.00002
NM_016180.5(SLC45A2):c.1016C>G (p.Thr339Arg) rs886043477 0.00001
NM_016180.5(SLC45A2):c.1016C>T (p.Thr339Ile) rs886043477 0.00001
NM_016180.5(SLC45A2):c.1264T>C (p.Tyr422His) rs758560526 0.00001
NM_016180.5(SLC45A2):c.1354G>A (p.Glu452Lys) rs746045166 0.00001
NM_016180.5(SLC45A2):c.1447G>C (p.Val483Leu) rs928474154 0.00001
NM_016180.5(SLC45A2):c.163T>A (p.Tyr55Asn) rs746810929 0.00001
NM_016180.5(SLC45A2):c.185G>A (p.Ser62Asn) rs745819782 0.00001
NM_016180.5(SLC45A2):c.497A>G (p.Tyr166Cys) rs752655063 0.00001
NM_016180.5(SLC45A2):c.600A>G (p.Ile200Met) rs774818193 0.00001
NM_016180.5(SLC45A2):c.760A>T (p.Thr254Ser) rs1358321516 0.00001
NM_016180.5(SLC45A2):c.872A>G (p.Lys291Arg) rs1308986651 0.00001
NM_016180.5(SLC45A2):c.1310C>G (p.Thr437Ser)
NM_016180.5(SLC45A2):c.1366G>A (p.Glu456Lys)
NM_016180.5(SLC45A2):c.1445T>G (p.Met482Arg) rs2478762606
NM_016180.5(SLC45A2):c.1477G>A (p.Gly493Ser)
NM_016180.5(SLC45A2):c.1543G>A (p.Ala515Thr)
NM_016180.5(SLC45A2):c.1576G>A (p.Val526Ile)
NM_016180.5(SLC45A2):c.281A>G (p.His94Arg) rs573922051
NM_016180.5(SLC45A2):c.611A>T (p.His204Leu)
NM_016180.5(SLC45A2):c.641A>C (p.Glu214Ala)
NM_016180.5(SLC45A2):c.754C>G (p.Gln252Glu)
NM_016180.5(SLC45A2):c.835G>A (p.Val279Ile)
NM_016180.5(SLC45A2):c.869A>G (p.Asn290Ser) rs753171308
NM_016180.5(SLC45A2):c.893G>T (p.Arg298Leu) rs374649089
NM_016180.5(SLC45A2):c.937A>C (p.Met313Leu)
NM_016180.5(SLC45A2):c.985A>G (p.Thr329Ala)

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