ClinVar Miner

List of variants studied for Holt-Oram syndrome by Mendelics

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_181486.4(TBX5):c.538del (p.Gln180fs) rs1593876058
NM_181486.4(TBX5):c.593dup (p.Asn198fs)

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