List of variants reported as uncertain significance for Char syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003221.4(TFAP2B):c.912_916del	rs886061577	0.00083
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	rs1232197674	0.00001
NM_003221.4(TFAP2B):c.135_136del	rs140657288
NM_003221.4(TFAP2B):c.*1427del	rs886061580
NM_003221.4(TFAP2B):c.*1644del	rs886061581
NM_003221.4(TFAP2B):c.910_911del	rs35732696
NM_003221.4(TFAP2B):c.910_911insC	rs1554165384
NM_003221.4(TFAP2B):c.911_915del	rs770818655
NM_003221.4(TFAP2B):c.*911del	rs35732696
NM_003221.4(TFAP2B):c.*912CA[5]	rs35649205
NM_003221.4(TFAP2B):c.*912CA[6]	rs35649205
NM_003221.4(TFAP2B):c.*912CA[8]	rs35649205
NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His)	rs1762765738
NM_003221.4(TFAP2B):c.540+7ACAA[7]	rs368226832
NM_003221.4(TFAP2B):c.541-3_541-2del
NM_003221.4(TFAP2B):c.805G>A (p.Gly269Ser)
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)	rs1057518947

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