ClinVar Miner

List of variants in gene combination CFTR, LOC111674477 studied for not provided

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.4242+198T>C rs1429568 0.23544
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser) rs199827645 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln) rs780785939 0.00001
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe) rs762847468 0.00001
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr) rs766659587 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn) rs1562929623 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4273G>A (p.Asp1425Asn) rs867990936
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) rs761669740
NM_000492.4(CFTR):c.4324A>G (p.Ser1442Gly)
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=) rs779359608
NM_000492.4(CFTR):c.4387C>T (p.Gln1463Ter) rs886044425
NM_000492.4(CFTR):c.4392del (p.Ile1464fs) rs1793395260
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys) rs397508716
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro) rs758818611

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