ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) rs1735527919 0.00001
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser) rs1329800608 0.00001
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln) rs863225178
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln) rs746926711
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg) rs1796552273
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala) rs1779345100
NM_014425.5(INVS):c.491A>G (p.His164Arg) rs1831445914
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val) rs1317766293
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520

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