ClinVar Miner

List of variants in gene NOG studied for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005450.6(NOG):c.101G>C (p.Arg34Pro)
NM_005450.6(NOG):c.103C>T (p.Pro35Ser) rs28937580
NM_005450.6(NOG):c.104C>G (p.Pro35Arg) rs104894611
NM_005450.6(NOG):c.386T>A (p.Leu129Ter) rs104894613
NM_005450.6(NOG):c.551G>A (p.Cys184Tyr) rs104894612
NM_005450.6(NOG):c.554C>G (p.Ser185Cys) rs2145567535
NM_005450.6(NOG):c.565G>T (p.Gly189Cys) rs104894609
NM_005450.6(NOG):c.58del (p.Leu20fs) rs2145567008
NM_005450.6(NOG):c.599T>C (p.Leu200Pro) rs1567745111
NM_005450.6(NOG):c.611G>A (p.Arg204Gln) rs104894610
NM_005450.6(NOG):c.611G>T (p.Arg204Leu) rs104894610
NM_005450.6(NOG):c.614G>A (p.Trp205Ter) rs1567745119
NM_005450.6(NOG):c.615G>C (p.Trp205Cys) rs104894615
NM_005450.6(NOG):c.649T>G (p.Trp217Gly) rs104894603
NM_005450.6(NOG):c.64dup (p.Ala22fs) rs1597919829
NM_005450.6(NOG):c.664T>G (p.Tyr222Asp) rs121908948
NM_005450.6(NOG):c.665A>G (p.Tyr222Cys) rs104894602
NM_005450.6(NOG):c.668C>T (p.Pro223Leu) rs104894608
NM_005450.6(NOG):c.696C>G (p.Cys232Trp) rs387906844

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