ClinVar Miner

List of variants in gene combination IFT140, LOC126862260 reported as likely benign for short rib dysplasia

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_014714.4(IFT140):c.3141+14G>A rs372698828 0.00051
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=) rs767092157 0.00005
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=) rs139078766 0.00005
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) rs575485883 0.00002
NM_014714.4(IFT140):c.2997+9C>G rs1596304034 0.00002
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966 0.00002
NM_014714.4(IFT140):c.2796C>T (p.Phe932=) rs765939872 0.00001
NM_014714.4(IFT140):c.2862T>C (p.Asp954=) rs747349401 0.00001
NM_014714.4(IFT140):c.2865-5C>T rs779711939 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=) rs777862012 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2970C>T (p.Ile990=) rs375635975 0.00001
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=) rs753196603 0.00001
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=) rs545658252 0.00001
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=) rs2040617691 0.00001
NM_014714.4(IFT140):c.3141+13C>T rs1189568433 0.00001
NM_014714.4(IFT140):c.3141+7C>T rs754889709 0.00001
NM_014714.4(IFT140):c.2769-10_2769-8del rs747185911
NM_014714.4(IFT140):c.2769-11T>G
NM_014714.4(IFT140):c.2769-15C>T
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)
NM_014714.4(IFT140):c.2814G>C (p.Leu938=) rs750405092
NM_014714.4(IFT140):c.2820G>A (p.Glu940=) rs2141175137
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2829G>C (p.Pro943=)
NM_014714.4(IFT140):c.2835G>C (p.Leu945=)
NM_014714.4(IFT140):c.2864+18G>T
NM_014714.4(IFT140):c.2864+19G>A
NM_014714.4(IFT140):c.2864+19_2864+27del
NM_014714.4(IFT140):c.2865-15T>C
NM_014714.4(IFT140):c.2865-18G>T
NM_014714.4(IFT140):c.2865-4G>A rs113784788
NM_014714.4(IFT140):c.2865-4G>T rs113784788
NM_014714.4(IFT140):c.2865-8G>T
NM_014714.4(IFT140):c.2868C>A (p.Thr956=)
NM_014714.4(IFT140):c.2868C>T (p.Thr956=)
NM_014714.4(IFT140):c.2869C>T (p.Leu957=)
NM_014714.4(IFT140):c.2886G>T (p.Ala962=)
NM_014714.4(IFT140):c.2904G>A (p.Gln968=)
NM_014714.4(IFT140):c.2907C>A (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2923C>T (p.Leu975=)
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)
NM_014714.4(IFT140):c.2970C>A (p.Ile990=)
NM_014714.4(IFT140):c.2997+11C>T rs551125772
NM_014714.4(IFT140):c.2997+12G>A rs200390733
NM_014714.4(IFT140):c.2997+12G>C
NM_014714.4(IFT140):c.2997+18G>A
NM_014714.4(IFT140):c.2997+20G>A
NM_014714.4(IFT140):c.2997+8C>A
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.2998-14C>A
NM_014714.4(IFT140):c.2998-4C>T rs764678988
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)
NM_014714.4(IFT140):c.3045C>T (p.His1015=) rs2141170948
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)
NM_014714.4(IFT140):c.3078C>T (p.Val1026=)
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=) rs2141170386
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)
NM_014714.4(IFT140):c.3141+15G>C
NM_014714.4(IFT140):c.3141+16G>T

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