ClinVar Miner

List of variants reported as not provided by Medical Biology Lab, Gaziantep University

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) rs431825177 0.00001
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu) rs483353018
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr) rs142748016
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val) rs387907566
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu) rs387907569
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000518.4(HBB):c.-80del rs397509430
NM_001142.2(AMELX):c.129G>C (p.Gln43His) rs431825176
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) rs431825178
NM_198488.5(FAM83H):c.2250C>T (p.Gly750=) rs431825179
NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu) rs431825180
NM_198488.5(FAM83H):c.2766C>T (p.Arg922=) rs431825181

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