ClinVar Miner

List of variants reported as uncertain significance by Ege University Pediatric Genetics, Ege University

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro) rs782636181 0.00008
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) rs749118487 0.00003
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg) rs921866912 0.00001
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420 0.00001
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) rs879845715 0.00001
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000089.4(COL1A2):c.1022_1033del (p.Ala341_Leu344del) rs1584319451
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe) rs1599617735
NM_000170.3(GLDC):c.1707+5G>C rs1587947174
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) rs1599262171
NM_000387.6(SLC25A20):c.715A>C (p.Thr239Pro) rs143961330
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) rs760333736
NM_000642.3(AGL):c.2113A>G (p.Ile705Val) rs1570445259
NM_000642.3(AGL):c.847-3C>A rs1571243667
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001876.4(CPT1A):c.968-3C>G rs1594337667
NM_001918.5(DBT):c.1190C>T (p.Thr397Ile) rs1570806466
NM_002437.5(MPV17):c.403T>A (p.Tyr135Asn) rs1572542541
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) rs1574398620
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_024312.5(GNPTAB):c.2956C>A (p.Arg986Ser) rs769587233
NM_153704.6(TMEM67):c.1598G>A (p.Gly533Glu) rs1586063519
NM_201384.3(PLEC):c.5044C>T (p.Gln1682Ter) rs1586920109

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