ClinVar Miner

List of variants in gene combination CHRNG, TIGD1 reported by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.1381-210G>A rs744159 0.40576
NM_005199.5(CHRNG):c.1381-180del rs5839437 0.21421
NM_005199.5(CHRNG):c.1036-64G>A rs2250451 0.20429
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17633
NM_005199.5(CHRNG):c.1381-300G>T rs142273229 0.17522
NM_005199.5(CHRNG):c.1381-217A>G rs182995488 0.00658
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00541
NM_005199.5(CHRNG):c.1380+222C>T rs191192073 0.00498
NM_005199.5(CHRNG):c.1381-127C>T rs114307143 0.00383
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs) rs1559304988
NM_005199.5(CHRNG):c.1229C>T (p.Ala410Val)
NM_005199.5(CHRNG):c.1381-155G>C rs729941

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