ClinVar Miner

List of variants studied for autosomal recessive disease by Bicknell laboratory, University of Otago

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017613.4(DONSON):c.494T>C (p.Phe165Ser) rs1010722195 0.00005
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_017613.4(DONSON):c.1634C>T (p.Pro545Leu) rs774616573 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) rs373671398 0.00001
NM_005916.5(MCM7):c.1616A>G (p.Tyr539Cys) rs778583017 0.00001
NM_001190818.1(ORC1):c.2392-249_*3804del
NM_002388.6(MCM3):c.2282A>T (p.Gln761Leu) rs764129051
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs) rs1933800287
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_005916.5(MCM7):c.1579C>T (p.Arg527Ter) rs76705400
NM_005916.5(MCM7):c.415C>T (p.Gln139Ter) rs1054083917
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023
NM_017613.4(DONSON):c.607-36G>A rs752810960
NM_017613.4(DONSON):c.631C>T (p.Arg211Cys) rs774052186
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.891T>A (p.Asn297Lys) rs2134598310
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del) rs1567502140
NM_030928.4(CDT1):c.1276-24A>G rs2142945856

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