ClinVar Miner

List of variants studied for Holt-Oram syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_181486.4(TBX5):c.*1511G>A rs886048983 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.*1071C>T rs890525823 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130

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