ClinVar Miner

List of variants in gene MYO1E reported as uncertain significance for inherited focal segmental glomerulosclerosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004998.4(MYO1E):c.332+8G>A rs4508371 0.97982
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala) rs369774689 0.00026
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr) rs142638347 0.00017
NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His) rs370199714 0.00013
NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn) rs368888160 0.00013
NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys) rs774652175 0.00012
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala) rs762762940 0.00010
NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln) rs757483863 0.00006
NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu) rs376718983 0.00005
NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp) rs763194287 0.00004
NM_004998.4(MYO1E):c.839C>T (p.Ala280Val) rs375751619 0.00004
NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr) rs775958627 0.00003
NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp) rs149359240 0.00003
NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp) rs1020273476 0.00002
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp) rs375940461 0.00002
NM_004998.4(MYO1E):c.2334+5G>A rs374917616 0.00002
NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile) rs376817753 0.00002
NM_004998.4(MYO1E):c.433A>G (p.Ile145Val) rs749937776 0.00002
NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr) rs746688811 0.00001
NM_004998.4(MYO1E):c.2050-3C>T rs776916643 0.00001
NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys) rs765316403 0.00001
NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser) rs542281660 0.00001
NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys) rs753956205 0.00001
NM_004998.4(MYO1E):c.818C>T (p.Thr273Met) rs766788690 0.00001
NM_004998.4(MYO1E):c.1080C>T (p.His360=)
NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln)
NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr) rs372880204
NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)
NM_004998.4(MYO1E):c.2050-400G>C
NM_004998.4(MYO1E):c.2062G>C (p.Glu688Gln)
NM_004998.4(MYO1E):c.2335-465C>G
NM_004998.4(MYO1E):c.2350C>A (p.Leu784Met)
NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala) rs757642502
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg) rs147596471
NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp)

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