ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 6

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004998.4(MYO1E):c.332+8G>A rs4508371 0.97982
NM_004998.4(MYO1E):c.1008C>T (p.Ser336=) rs2230155 0.37486
NM_004998.4(MYO1E):c.2673A>G (p.Ala891=) rs2306791 0.26773
NM_004998.4(MYO1E):c.511-19A>T rs2306782 0.01292
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_004998.4(MYO1E):c.1617-12C>G rs192317472 0.00636
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=) rs145459485 0.00334
NM_004998.4(MYO1E):c.978G>A (p.Arg326=) rs141570155 0.00199
NM_004998.4(MYO1E):c.147+14G>T rs183374173 0.00123
NM_004998.4(MYO1E):c.1616+17A>G rs138790400 0.00120
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_004998.4(MYO1E):c.2627+8C>T rs12232341 0.00074
NM_004998.4(MYO1E):c.511-17C>T rs118012522 0.00071
NM_004998.4(MYO1E):c.669G>A (p.Gln223=) rs142105673 0.00049
NM_004998.4(MYO1E):c.1530+14C>T rs116371817 0.00043
NM_004998.4(MYO1E):c.2878+19G>A rs200710336 0.00043
NM_004998.4(MYO1E):c.2335-13C>T rs775751894 0.00034
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=) rs146652440 0.00030
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala) rs369774689 0.00026
NM_004998.4(MYO1E):c.1805+7G>A rs561678142 0.00021
NM_004998.4(MYO1E):c.2628-8T>C rs373053697 0.00021
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=) rs144794852 0.00021
NM_004998.4(MYO1E):c.2164+12A>G rs187897054 0.00020
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr) rs142638347 0.00017
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=) rs200987052 0.00015
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.3081-6C>T rs201630409 0.00011
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala) rs762762940 0.00010
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=) rs370612369 0.00007
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.1275+12C>G rs373603961 0.00004
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=) rs140388346 0.00004
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.1770C>T (p.Asn590=) rs149553440 0.00003
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.1415C>T (p.Ala472Val) rs371914169 0.00001
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.2179T>C (p.Leu727=) rs774695459 0.00001
NM_004998.4(MYO1E):c.2481-12A>G rs370209627 0.00001
NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg) rs372582214 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_033195.3(LDHAL6B):c.475G>C (p.Val159Leu) rs554952558 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.2060T>C (p.Leu687Ser) rs1596351849
NM_004998.4(MYO1E):c.2085T>G (p.Tyr695Ter) rs778868018
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC rs2140317179
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.2878+18C>T rs759274124
NM_004998.4(MYO1E):c.2908C>T (p.Gln970Ter) rs2079495070
NM_004998.4(MYO1E):c.475G>C (p.Ala159Pro) rs387906807
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter) rs1427276872

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