ClinVar Miner

List of variants studied for chromosome 9 disorder

Included ClinVar conditions (4):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61403
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51286
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.41933
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.40831
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00017
NM_016111.4(TELO2):c.2376C>T (p.Asp792=) rs200969710 0.00017
NM_016111.4(TELO2):c.238C>A (p.His80Asn) rs199863486 0.00014
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile) rs775272837 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00004
NM_016111.4(TELO2):c.194G>C (p.Cys65Ser) rs141008024 0.00004
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp) rs143422330 0.00004
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_016111.4(TELO2):c.1546C>T (p.Arg516Trp) rs763395160 0.00001
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys) rs766665093 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.1842+5G>A rs758551997 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp) rs373899324 0.00001
46,XY,der(21)t(9;21)(p11;p12)
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1
GRCh37/hg19 9p24.3-23(chr9:203861-12127088)
GRCh37/hg19 9p24.3-23(chr9:203861-12570076)
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)
NC_000009.11:g.(?_134929)_(8733886_?)del
NC_000009.12:g.1_190938del
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu) rs2039707751
NM_016111.4(TELO2):c.1612_1621dup (p.Leu541delinsProTer)
NM_016111.4(TELO2):c.1770G>A (p.Pro590=)
NM_016111.4(TELO2):c.2226+1G>C
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr) rs2040070431
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg) rs2505909090
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser) rs1463971276
NM_016111.4(TELO2):c.933+11del rs11344586
NM_016111.4(TELO2):c.946C>T (p.Gln316Ter)
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro) rs750187494
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs) rs2492776690
Single allele

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