ClinVar Miner

List of variants in gene HYDIN reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_001270974.2(HYDIN):c.9248+17C>G rs150471373 0.00322
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn) rs199690569 0.00153
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp) rs200260585 0.00102
NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser) rs201875517 0.00096
NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu) rs374224023 0.00089
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala) rs191539779 0.00056
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln) rs201503269 0.00042
NM_001270974.2(HYDIN):c.14658+5G>A rs192176702 0.00029
NM_001270974.2(HYDIN):c.7483G>A (p.Asp2495Asn) rs368122246 0.00029
NM_001270974.2(HYDIN):c.11695G>A (p.Val3899Met) rs1626593 0.00001
NM_001270974.2(HYDIN):c.15092C>T (p.Ser5031Leu) rs763594182 0.00001
NM_001270974.2(HYDIN):c.3187A>G (p.Lys1063Glu) rs1214490303 0.00001
NM_001270974.2(HYDIN):c.6864C>A (p.His2288Gln) rs1336810918 0.00001
NM_001270974.2(HYDIN):c.10247T>G (p.Val3416Gly) rs2040667130
NM_001270974.2(HYDIN):c.10441C>T (p.Arg3481Trp)
NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)
NM_001270974.2(HYDIN):c.13603C>T (p.Pro4535Ser) rs267604614
NM_001270974.2(HYDIN):c.13680-3A>G
NM_001270974.2(HYDIN):c.1949G>A (p.Arg650His)
NM_001270974.2(HYDIN):c.2702G>T (p.Gly901Val)
NM_001270974.2(HYDIN):c.3042+139A>G
NM_001270974.2(HYDIN):c.3640A>G (p.Ile1214Val)
NM_001270974.2(HYDIN):c.373A>T (p.Asn125Tyr)
NM_001270974.2(HYDIN):c.5152G>A (p.Val1718Met)
NM_001270974.2(HYDIN):c.5789-39A>G
NM_001270974.2(HYDIN):c.7370T>C (p.Phe2457Ser)
NM_001270974.2(HYDIN):c.8093A>T (p.Lys2698Met) rs2143778645
NM_001270974.2(HYDIN):c.8185G>A (p.Gly2729Arg)
NM_001270974.2(HYDIN):c.8638_8658dup (p.Glu2880_Leu2886dup) rs2143763196

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