ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_014714.3(IFT140):c.-4C>T rs140403660
NM_014714.3(IFT140):c.-6T>A rs886051771
NM_014714.3(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.3(IFT140):c.1155+15G>A rs764275810
NM_014714.3(IFT140):c.1230G>A (p.Ser410=) rs199840711
NM_014714.3(IFT140):c.128T>C (p.Val43Ala) rs372148301
NM_014714.3(IFT140):c.1336A>G (p.Ile446Val) rs139619013
NM_014714.3(IFT140):c.1360-14G>A rs369246649
NM_014714.3(IFT140):c.1424G>A (p.Arg475Gln)
NM_014714.3(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.3(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.3(IFT140):c.22C>G (p.Gln8Glu) rs145267929
NM_014714.3(IFT140):c.298C>G (p.Leu100Val) rs546498421
NM_014714.3(IFT140):c.36G>A (p.Pro12=) rs574028286
NM_014714.3(IFT140):c.410G>A (p.Arg137Gln) rs145718272
NM_014714.3(IFT140):c.422C>T (p.Thr141Met) rs527332087
NM_014714.3(IFT140):c.481C>G (p.Pro161Ala)
NM_014714.3(IFT140):c.491+7G>A rs187521755
NM_014714.3(IFT140):c.546C>T (p.Asp182=) rs150014480
NM_014714.3(IFT140):c.657G>A (p.Glu219=) rs757028149
NM_014714.3(IFT140):c.685G>A (p.Ala229Thr) rs555382397
NM_014714.3(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.3(IFT140):c.758G>A (p.Arg253Gln) rs141993139
NM_014714.3(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.3(IFT140):c.778C>T (p.Pro260Ser) rs369671309
NM_014714.3(IFT140):c.810+9G>T rs886051767
NM_014714.3(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.3(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.3(IFT140):c.925G>A (p.Glu309Lys) rs141993646
NM_014714.3(IFT140):c.937C>G (p.Leu313Val) rs758052767

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