ClinVar Miner

List of variants studied for Caffey disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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