List of variants in gene MYLK reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 69

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HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)	rs35156360	0.01032
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	rs56056823	0.00499
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	rs41366751	0.00406
NM_053025.4(MYLK):c.4620-6C>T	rs113607507	0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His)	rs140148380	0.00167
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)	rs35912339	0.00106
NM_053025.4(MYLK):c.3832-6C>T	rs185681684	0.00088
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)	rs149530842	0.00055
NM_053025.4(MYLK):c.999G>A (p.Pro333=)	rs13319347	0.00045
NM_053025.4(MYLK):c.1785C>T (p.Ser595=)	rs370094325	0.00029
NM_053025.4(MYLK):c.249C>T (p.Cys83=)	rs149179973	0.00023
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)	rs147187907	0.00022
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)	rs138265409	0.00019
NM_053025.4(MYLK):c.3981C>T (p.Val1327=)	rs373556266	0.00017
NM_053025.4(MYLK):c.1569C>T (p.Cys523=)	rs150378280	0.00016
NM_053025.4(MYLK):c.3681C>T (p.Ala1227=)	rs201663473	0.00015
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)	rs146320279	0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)	rs151294221	0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)	rs371602931	0.00014
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)	rs34542174	0.00013
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)	rs201332554	0.00012
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)	rs56378658	0.00010
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)	rs536506601	0.00009
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)	rs370194660	0.00009
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=)	rs147536036	0.00007
NM_053025.4(MYLK):c.149C>T (p.Ala50Val)	rs369576521	0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile)	rs766027720	0.00006
NM_053025.4(MYLK):c.2326G>A (p.Val776Met)	rs372707781	0.00006
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr)	rs11558550	0.00006
NM_053025.4(MYLK):c.3537G>A (p.Ala1179=)	rs375256466	0.00006
NM_053025.4(MYLK):c.4289-5C>A	rs558865554	0.00006
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=)	rs141546581	0.00004
NM_053025.4(MYLK):c.2076G>A (p.Thr692=)	rs147295583	0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His)	rs141131535	0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)	rs374662467	0.00003
NM_053025.4(MYLK):c.1008G>A (p.Pro336=)	rs143682943	0.00002
NM_053025.4(MYLK):c.4656C>T (p.Asp1552=)	rs749367561	0.00002
NM_053025.4(MYLK):c.524G>T (p.Gly175Val)	rs375456836	0.00002
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile)	rs961194527	0.00001
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met)	rs368417112	0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys)	rs143468713	0.00001
NM_053025.4(MYLK):c.3315A>G (p.Gln1105=)	rs1576620303	0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)	rs761508149	0.00001
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys)	rs140100605
NM_053025.4(MYLK):c.1221C>A (p.Gly407=)	rs765175526
NM_053025.4(MYLK):c.1941A>C (p.Ser647=)	rs1241420717
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)	rs138172035
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)	rs150936840
NM_053025.4(MYLK):c.2304C>T (p.Phe768=)	rs1560108139
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys)
NM_053025.4(MYLK):c.2608C>T (p.Arg870Ter)	rs865903260
NM_053025.4(MYLK):c.2617C>T (p.Leu873=)	rs1466712472
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr)	rs561148360
NM_053025.4(MYLK):c.373+1G>A	rs1576847488
NM_053025.4(MYLK):c.4058_4060del (p.Tyr1353_Gly1354delinsCys)	rs1560027806
NM_053025.4(MYLK):c.422+6T>G
NM_053025.4(MYLK):c.4289-3del	rs41431347
NM_053025.4(MYLK):c.4333C>T (p.Pro1445Ser)	rs2108198278
NM_053025.4(MYLK):c.4425T>G (p.Phe1475Leu)	rs1064797297
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr)	rs1560012143
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln)	rs1114167363
NM_053025.4(MYLK):c.469G>A (p.Gly157Arg)	rs900244669
NM_053025.4(MYLK):c.4896G>C (p.Val1632=)	rs2058710543
NM_053025.4(MYLK):c.5253T>C (p.Ala1751=)	rs1475852496
NM_053025.4(MYLK):c.5460T>G (p.Val1820=)
NM_053025.4(MYLK):c.5619C>T (p.Cys1873=)
NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly)	rs2057335896
NM_053025.4(MYLK):c.600A>C (p.Pro200=)
NM_053025.4(MYLK):c.885G>A (p.Lys295=)	rs1230223829

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