ClinVar Miner

List of variants studied for Char syndrome

Included ClinVar conditions (2):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003221.3(TFAP2B):c.-34G>A rs2272903 0.17374
NM_003221.3(TFAP2B):c.*4228G>T rs67092917 0.15514
NM_003221.4(TFAP2B):c.*912_*916del rs886061577 0.00083
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733 0.00001
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.*15AAG[1] rs140328017
NM_003221.4(TFAP2B):c.*1644del rs886061581
NM_003221.4(TFAP2B):c.*1938dup rs568007912
NM_003221.4(TFAP2B):c.*4213GT[1] rs373428030
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.1302C>G (p.Asn434Lys)
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003221.4(TFAP2B):c.540+7ACAA[7] rs368226832
NM_003221.4(TFAP2B):c.541-3_541-2del
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.650del (p.Gly217fs) rs1561964103
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394
NM_003221.4(TFAP2B):c.805G>A (p.Gly269Ser)
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)
NM_003221.4(TFAP2B):c.822-1G>C rs80338916
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) rs1057518947
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)

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