ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg) rs144932466 0.00123
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.3544-7C>T rs762029327 0.00005
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00004
NM_005422.4(TECTA):c.538C>T (p.Leu180Phe) rs372723914 0.00004
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met) rs373132598 0.00003
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser) rs758272613 0.00003
NM_005422.4(TECTA):c.554A>G (p.Glu185Gly) rs771899079 0.00003
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter) rs955468054 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.4055G>A (p.Cys1352Tyr) rs749186691 0.00001
NM_005422.4(TECTA):c.4879G>A (p.Gly1627Arg) rs754784487 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.1774+1G>T rs372925383
NM_005422.4(TECTA):c.1893C>A (p.Cys631Ter) rs1555123909
NM_005422.4(TECTA):c.2015C>T (p.Thr672Ile) rs1555123952
NM_005422.4(TECTA):c.336T>C (p.Tyr112=) rs886043412
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4246G>C (p.Gly1416Arg) rs758356955
NM_005422.4(TECTA):c.4382C>T (p.Pro1461Leu) rs920381859
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=) rs141203939
NM_005422.4(TECTA):c.730_737del (p.Arg244fs) rs1565518246

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