ClinVar Miner

List of variants studied for Osteogenesis imperfecta type 10

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_001235.5(SERPINH1):c.*125A>G rs9175 0.39341
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) rs649257 0.36213
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) rs585821 0.36110
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35935
NM_001235.5(SERPINH1):c.*525C>A rs6704 0.33025
NM_001235.5(SERPINH1):c.-73G>A rs78251872 0.03006
NM_001235.5(SERPINH1):c.-19C>T rs78910605 0.02974
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.02966
NM_001235.5(SERPINH1):c.*490G>A rs12978 0.02704
NM_001235.5(SERPINH1):c.*580T>G rs145619367 0.00443
NM_001235.5(SERPINH1):c.*228A>G rs189882479 0.00411
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00276
NM_001235.5(SERPINH1):c.*117G>A rs184623179 0.00174
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00171
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_001235.5(SERPINH1):c.*153G>A rs146501145 0.00155
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_001235.5(SERPINH1):c.*556G>A rs180685772 0.00095
NM_001235.5(SERPINH1):c.*179A>G rs557446600 0.00093
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001235.3(SERPINH1):c.-189G>A rs185295615 0.00081
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) rs150586616 0.00071
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) rs375913094 0.00026
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu) rs112083274 0.00026
NM_001235.3(SERPINH1):c.-191A>G rs865919284 0.00012
NM_001235.5(SERPINH1):c.1059C>T (p.His353=) rs199548932 0.00011
NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys) rs749665611 0.00011
NM_001235.3(SERPINH1):c.-185T>C rs886048660 0.00006
NM_001235.5(SERPINH1):c.*354G>T rs541972599 0.00006
NM_001235.5(SERPINH1):c.*4C>G rs550152153 0.00006
NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=) rs368586977 0.00006
NM_001235.5(SERPINH1):c.1208T>C (p.Ile403Thr) rs201566218 0.00006
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=) rs775801195 0.00005
NM_001235.5(SERPINH1):c.839G>A (p.Arg280His) rs370057420 0.00005
NM_001235.5(SERPINH1):c.600A>C (p.Leu200=) rs764723506 0.00004
NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile) rs201416803 0.00003
NM_001235.5(SERPINH1):c.1178G>A (p.Arg393Gln) rs772299825 0.00003
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) rs138784081 0.00003
NM_001235.5(SERPINH1):c.573C>A (p.Asp191Glu) rs745340617 0.00003
NM_001235.5(SERPINH1):c.823G>A (p.Val275Met) rs199679249 0.00003
NM_001235.5(SERPINH1):c.*531C>G rs374355309 0.00001
NM_001235.5(SERPINH1):c.*536C>A rs1054819973 0.00001
NM_001235.5(SERPINH1):c.1016G>A (p.Arg339His) rs535510332 0.00001
NM_001235.5(SERPINH1):c.1042C>T (p.Leu348=) rs757716271 0.00001
NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val) rs1281239903 0.00001
NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His) rs781125078 0.00001
NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln) rs760141322 0.00001
NM_001235.5(SERPINH1):c.139A>G (p.Ser47Gly) rs1251272276 0.00001
NM_001235.5(SERPINH1):c.160T>C (p.Leu54=) rs540061657 0.00001
NM_001235.5(SERPINH1):c.486C>G (p.Asn162Lys) rs770842307 0.00001
NM_001235.5(SERPINH1):c.58G>A (p.Glu20Lys) rs200397594 0.00001
NM_001235.5(SERPINH1):c.807C>T (p.Ile269=) rs773342436 0.00001
NC_000011.10:g.75554407_75559680del
NM_001235.3(SERPINH1):c.-211G>A rs564033612
NM_001235.5(SERPINH1):c.*511G>A rs886048662
NM_001235.5(SERPINH1):c.*668A>G rs185499724
NM_001235.5(SERPINH1):c.*668A>T rs185499724
NM_001235.5(SERPINH1):c.*73G>T rs1018656928
NM_001235.5(SERPINH1):c.*74G>A rs116470636
NM_001235.5(SERPINH1):c.1233dup (p.Asp412Ter) rs1565244847
NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro) rs137853892
NM_001235.5(SERPINH1):c.339G>C (p.Glu113Asp) rs763945752
NM_001235.5(SERPINH1):c.480G>C (p.Lys160Asn) rs886048661
NM_001235.5(SERPINH1):c.588C>T (p.Asp196=) rs1232634716
NM_001235.5(SERPINH1):c.622+25TCC[6] rs35462148
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr) rs886039819

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