ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy by Dan Cohn Lab,University Of California Los Angeles

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Total variants: 12
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HGVS dbSNP
NM_001199397.2(NEK1):c.1122A>C (p.Glu374Asp) rs992324423
NM_001318493.2(IFT88):c.2114G>C (p.Arg705Pro) rs373832683
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811

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