ClinVar Miner

List of variants in gene GAS8 reported as benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001481.3(GAS8):c.597A>G (p.Glu199=) rs868045 0.36742
NM_001481.3(GAS8):c.495+16G>A rs3785182 0.14325
NM_001481.3(GAS8):c.132C>T (p.Arg44=) rs2302513 0.14320
NM_001481.3(GAS8):c.776G>A (p.Arg259Gln) rs17178299 0.05624
NM_001481.3(GAS8):c.1050C>T (p.Thr350=) rs61734731 0.04165
NM_001481.3(GAS8):c.-7T>G rs80287915 0.03946
NM_001481.3(GAS8):c.38A>G (p.Lys13Arg) rs61734732 0.01157
NM_001481.3(GAS8):c.833G>A (p.Arg278His) rs117053233 0.00781
NM_001481.3(GAS8):c.289-12A>G rs116537058 0.00762
NM_001481.3(GAS8):c.595G>A (p.Glu199Lys) rs868044 0.00586
NM_001481.3(GAS8):c.1188T>G (p.Pro396=) rs61734729 0.00582
NM_001481.3(GAS8):c.476T>A (p.Val159Glu) rs116113385 0.00525
NM_001481.3(GAS8):c.1106G>A (p.Arg369His) rs61734730 0.00380
NM_001481.3(GAS8):c.1029C>T (p.Asp343=) rs7205066 0.00272
NM_001481.3(GAS8):c.3+13G>A rs747039502 0.00128
NM_001481.3(GAS8):c.407G>C (p.Ser136Thr) rs148760410 0.00077
NM_001481.3(GAS8):c.816G>A (p.Val272=) rs146751871 0.00061
NM_001481.3(GAS8):c.1158C>T (p.Asn386=) rs144431155 0.00056
NM_001481.3(GAS8):c.45C>A (p.Thr15=) rs188382147 0.00029
NM_001481.3(GAS8):c.550+10C>T rs77534905 0.00011
NM_001481.3(GAS8):c.*9dup rs3833069
NM_001481.3(GAS8):c.1395A>G (p.Thr465=) rs3743825
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928

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