ClinVar Miner

List of variants in gene BDP1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu) rs6453014 0.80668
NM_018429.3(BDP1):c.4039G>A (p.Val1347Met) rs6886336 0.80644
NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met) rs715747 0.77391
NM_018429.3(BDP1):c.114T>G (p.Asp38Glu) rs3748043 0.76698
NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser) rs715748 0.44915
NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile) rs1961760 0.44739
NM_018429.3(BDP1):c.5893-36G>A rs276590 0.44671
NM_018429.3(BDP1):c.7074G>T (p.Pro2358=) rs469039 0.44242
NM_018429.3(BDP1):c.2332G>A (p.Val778Met) rs3761967 0.44225
NM_018429.3(BDP1):c.4060-77G>A rs418738 0.41911
NM_018429.3(BDP1):c.6462C>T (p.Leu2154=) rs182190 0.41887
NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu) rs1698063 0.41809
NM_018429.3(BDP1):c.2373-15C>T rs66954493 0.04829
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile) rs200898204 0.00017
NM_018429.3(BDP1):c.6809-2A>G rs777466033 0.00002
NM_018429.3(BDP1):c.*1107T>C rs2112148040
NM_018429.3(BDP1):c.4613C>G (p.Ala1538Gly)
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)

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