ClinVar Miner

List of variants reported as benign for autosomal recessive omodysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005708.5(GPC6):c.*3833G>C rs7986904 0.90702
NM_005708.5(GPC6):c.-623G>A rs319522 0.40757
NM_005708.5(GPC6):c.*3693A>G rs7988636 0.20296
NM_005708.5(GPC6):c.*1665C>A rs7334430 0.18473
NM_005708.5(GPC6):c.1234G>A (p.Val412Met) rs1535692 0.17412
NM_005708.5(GPC6):c.-320C>A rs17645969 0.15297
NM_005708.5(GPC6):c.*4656T>A rs9561553 0.10464
NM_005708.5(GPC6):c.*2031A>C rs45618731 0.10401
NM_005708.5(GPC6):c.1248G>A (p.Thr416=) rs2274020 0.09700
NM_005708.5(GPC6):c.*4066A>C rs41275872 0.05872
NM_005708.5(GPC6):c.*3723T>G rs15600 0.04644
NM_005708.5(GPC6):c.*255G>A rs9584224 0.04109
NM_005708.5(GPC6):c.*4182C>A rs41275874 0.03649
NM_005708.5(GPC6):c.*338A>C rs7327686 0.02117
NM_005708.5(GPC6):c.*2407A>T rs73553865 0.02098
NM_005708.5(GPC6):c.*385G>A rs7325795 0.01818
NM_005708.5(GPC6):c.*2605C>A rs113980048 0.01470
NM_005708.5(GPC6):c.*1094T>A rs9561552 0.01039
NM_005708.5(GPC6):c.*672A>G rs116355843 0.01035
NM_005708.5(GPC6):c.-137C>T rs188450235 0.00824
NM_005708.5(GPC6):c.*271T>A rs114342753 0.00790
NM_005708.5(GPC6):c.256C>T (p.Leu86Phe) rs143872144 0.00684
NM_005708.5(GPC6):c.991A>T (p.Met331Leu) rs78029763 0.00683
NM_005708.5(GPC6):c.*1675C>T rs114974584 0.00599
NM_005708.5(GPC6):c.64G>A (p.Gly22Arg) rs150023233 0.00409
NM_005708.5(GPC6):c.*2465A>G rs115005705 0.00354
NM_005708.5(GPC6):c.*4547G>T rs190534645 0.00158
NM_005708.5(GPC6):c.1272C>T (p.Asn424=) rs200389469 0.00009
NM_005708.5(GPC6):c.*1297C>G rs1951797
NM_005708.5(GPC6):c.*1297C>T rs1951797

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