ClinVar Miner

List of variants studied for osteogenesis imperfecta type 6

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_002615.7(SERPINF1):c.963T>C (p.Tyr321=) rs6828 0.77455
NM_002615.7(SERPINF1):c.440-39C>T rs4274474 0.75763
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) rs1136287 0.69033
NM_002615.7(SERPINF1):c.390T>C (p.Thr130=) rs8074840 0.27102
NM_002615.7(SERPINF1):c.440-28C>T rs4274475 0.26633
NM_002615.7(SERPINF1):c.644-14A>T rs3891224 0.12986
NM_002615.7(SERPINF1):c.643+9G>A rs12103559 0.07824
NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg) rs1804145 0.02133
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250 0.00231
NM_002615.7(SERPINF1):c.*37C>G rs12103619 0.00150
NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn) rs137997656 0.00066
NM_002615.7(SERPINF1):c.15G>T (p.Val5=) rs139841572 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_002615.7(SERPINF1):c.644-4C>T rs199977856 0.00053
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met) rs150899084 0.00047
NM_002615.7(SERPINF1):c.997+12G>A rs376447025 0.00019
NM_002615.7(SERPINF1):c.913C>G (p.Leu305Val) rs146939364 0.00016
NM_002615.7(SERPINF1):c.756C>A (p.Arg252=) rs144006481 0.00015
NM_002615.7(SERPINF1):c.643+6C>T rs199908714 0.00014
NM_002615.7(SERPINF1):c.1119C>G (p.Pro373=) rs148717983 0.00013
NM_002615.7(SERPINF1):c.826T>A (p.Phe276Ile) rs145833645 0.00013
NM_002615.7(SERPINF1):c.808G>A (p.Gly270Arg) rs369314029 0.00010
NM_002615.7(SERPINF1):c.970G>A (p.Glu324Lys) rs781432190 0.00008
NM_002615.7(SERPINF1):c.*87T>C rs886052650 0.00004
NM_002615.7(SERPINF1):c.42C>T (p.Leu14=) rs781013736 0.00003
NM_002615.7(SERPINF1):c.713C>T (p.Thr238Ile) rs748011764 0.00003
NM_002615.7(SERPINF1):c.*39C>T rs577188765 0.00002
NM_002615.7(SERPINF1):c.509C>T (p.Thr170Met) rs762383656 0.00002
NM_002615.7(SERPINF1):c.835C>T (p.Pro279Ser) rs753808651 0.00001
NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter) rs763291398 0.00001
NM_002615.7(SERPINF1):c.-37C>A
NM_002615.7(SERPINF1):c.-9+2dup rs398122519
NM_002615.7(SERPINF1):c.1057C>A (p.Leu353Met) rs746341445
NM_002615.7(SERPINF1):c.1062T>C (p.Thr354=) rs1270004032
NM_002615.7(SERPINF1):c.1075del (p.Arg359fs)
NM_002615.7(SERPINF1):c.1091G>A (p.Trp364Ter) rs767448036
NM_002615.7(SERPINF1):c.1092G>A (p.Trp364Ter) rs2151213460
NM_002615.7(SERPINF1):c.1112C>T (p.Thr371Ile) rs201562844
NM_002615.7(SERPINF1):c.1118_1119del (p.Pro373fs)
NM_002615.7(SERPINF1):c.1132C>T (p.Gln378Ter) rs193302873
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs) rs869312908
NM_002615.7(SERPINF1):c.119_120del (p.Val40fs) rs398122518
NM_002615.7(SERPINF1):c.1214C>T (p.Ala405Val) rs750443950
NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe) rs1597357758
NM_002615.7(SERPINF1):c.1217_1253del (p.Leu406fs) rs1597357740
NM_002615.7(SERPINF1):c.167C>G (p.Ala56Gly) rs76119062
NM_002615.7(SERPINF1):c.194T>C (p.Leu65Pro)
NM_002615.7(SERPINF1):c.221C>T (p.Pro74Leu) rs1907621979
NM_002615.7(SERPINF1):c.252T>G (p.Ser84Arg)
NM_002615.7(SERPINF1):c.257C>T (p.Ala86Val) rs886052647
NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)
NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter) rs369973630
NM_002615.7(SERPINF1):c.324_325dup (p.Tyr109fs) rs193302871
NM_002615.7(SERPINF1):c.345C>T (p.Ser115=) rs886052648
NM_002615.7(SERPINF1):c.377T>C (p.Leu126Pro)
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp) rs148005190
NM_002615.7(SERPINF1):c.397C>T (p.Gln133Ter) rs138610575
NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)
NM_002615.7(SERPINF1):c.4C>T (p.Gln2Ter)
NM_002615.7(SERPINF1):c.502G>T (p.Val168Phe) rs1597352279
NM_002615.7(SERPINF1):c.517C>T (p.Pro173Ser)
NM_002615.7(SERPINF1):c.532C>T (p.Gln178Ter)
NM_002615.7(SERPINF1):c.559C>T (p.Gln187Ter) rs1597352358
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_002615.7(SERPINF1):c.651G>A (p.Trp217Ter) rs1597355244
NM_002615.7(SERPINF1):c.653del (p.Val218fs) rs398122520
NM_002615.7(SERPINF1):c.696C>G (p.Tyr232Ter) rs193302872
NM_002615.7(SERPINF1):c.715G>A (p.Val239Met) rs376520683
NM_002615.7(SERPINF1):c.727ATG[1] (p.Met244del) rs750464528
NM_002615.7(SERPINF1):c.77del (p.Pro26fs) rs1272920425
NM_002615.7(SERPINF1):c.77dup (p.Glu27fs) rs1272920425
NM_002615.7(SERPINF1):c.786G>C (p.Lys262Asn)
NM_002615.7(SERPINF1):c.826TTC[1] (p.Phe277del) rs773952734
NM_002615.7(SERPINF1):c.838_839del (p.Leu280fs) rs2151212834
NM_002615.7(SERPINF1):c.840G>T (p.Leu280=) rs200114659
NM_002615.7(SERPINF1):c.85-14C>A rs200755661
NM_002615.7(SERPINF1):c.998-2A>G rs1555572921
NM_002615.7(SERPINF1):c.998-7T>A rs886052649

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