ClinVar Miner

List of variants studied for Nager acrofacial dysostosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235 0.00359
NM_005850.4(SF3B4):c.-263dup rs762430957 0.00009
NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu) rs1553765987 0.00001
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1148dup (p.His383fs) rs797045124
NM_005850.5(SF3B4):c.1199del (p.Pro400fs) rs797045123
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.1232del (p.Pro411fs) rs797045122
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) rs797045121
NM_005850.5(SF3B4):c.152G>T (p.Gly51Val)
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.2T>C (p.Met1Thr) rs2101648820
NM_005850.5(SF3B4):c.35-1G>A rs2101647799
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter) rs797045133
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter) rs797045132
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs) rs797045131
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_005850.5(SF3B4):c.763_781del (p.Pro255fs) rs2101646017
NM_005850.5(SF3B4):c.769del (p.Ile257fs) rs797045130
NM_005850.5(SF3B4):c.796dup (p.Met266fs) rs797045129
NM_005850.5(SF3B4):c.827dup (p.Ser277fs) rs797045128
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs) rs797045127
NM_005850.5(SF3B4):c.863A>G (p.His288Arg)
NM_005850.5(SF3B4):c.864del (p.His288fs) rs797045126
NM_005850.5(SF3B4):c.88del (p.Trp30fs) rs797045134
NM_005850.5(SF3B4):c.913+1G>A rs797045125

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