ClinVar Miner

List of variants reported as benign for Craniofacial-deafness-hand syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.1420+104G>A rs142988099 0.01258
NM_181458.4(PAX3):c.1420+220C>T rs45624434 0.01121
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_181458.4(PAX3):c.-205C>T rs565554258 0.00020
NM_181458.4(PAX3):c.-359G>T rs45501095 0.00019
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_181458.4(PAX3):c.1420+186G>A rs78035924 0.00006
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_181458.4(PAX3):c.1420+55C>T rs186207055

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