List of variants in gene COASY reported by GeneDx

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: 79

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.42561996C>A	rs629861	0.52400
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr)	rs615942	0.49854
NM_025233.7(COASY):c.700+230G>T	rs666039	0.49453
NM_025233.7(COASY):c.972A>G (p.Thr324=)	rs598126	0.49440
NM_025233.7(COASY):c.915+42C>T	rs668799	0.28315
NM_025233.7(COASY):c.1303-86C>G	rs77883531	0.04832
NM_025233.7(COASY):c.1486-5C>G	rs74886553	0.04354
NM_025233.7(COASY):c.701-160A>G	rs112168204	0.01664
NM_025233.7(COASY):c.1302+75C>T	rs114439049	0.01656
NM_025233.7(COASY):c.1666A>G (p.Ile556Val)	rs140982382	0.00563
NM_025233.7(COASY):c.1587C>T (p.His529=)	rs151074271	0.00522
NM_025233.7(COASY):c.700+96T>C	rs145954924	0.00421
NM_025233.7(COASY):c.700+183T>A	rs150045759	0.00411
NM_025233.7(COASY):c.802C>T (p.Pro268Ser)	rs143964295	0.00171
NM_025233.7(COASY):c.1303-22T>C	rs199822609	0.00113
NM_025233.7(COASY):c.207G>A (p.Thr69=)	rs148132220	0.00105
NM_025233.7(COASY):c.885G>C (p.Gly295=)	rs144328390	0.00092
NM_025233.7(COASY):c.1183G>A (p.Ala395Thr)	rs139263701	0.00070
NM_025233.7(COASY):c.81C>T (p.Thr27=)	rs145723983	0.00056
NM_025233.7(COASY):c.247G>T (p.Val83Phe)	rs115817227	0.00046
NM_025233.7(COASY):c.1195G>C (p.Gly399Arg)	rs149996795	0.00040
NM_025233.7(COASY):c.206C>T (p.Thr69Met)	rs115390312	0.00037
NM_025233.7(COASY):c.156G>C (p.Gln52His)	rs200009135	0.00030
NM_025233.7(COASY):c.1388-8C>T	rs375555007	0.00029
NM_025233.7(COASY):c.1064C>T (p.Pro355Leu)	rs373975726	0.00021
NM_025233.7(COASY):c.1285C>T (p.Arg429Trp)	rs201600053	0.00021
NM_025233.7(COASY):c.444C>G (p.Ala148=)	rs142297801	0.00016
NM_025233.7(COASY):c.1047+6C>T	rs34135057	0.00011
NM_025233.7(COASY):c.1302+7A>G	rs368716842	0.00011
NM_025233.7(COASY):c.1528G>A (p.Ala510Thr)	rs199623481	0.00010
NM_025233.7(COASY):c.518C>A (p.Thr173Lys)	rs751069547	0.00009
NM_025233.7(COASY):c.403C>T (p.Arg135Cys)	rs528587865	0.00006
NM_025233.7(COASY):c.1149G>A (p.Ala383=)	rs775259112	0.00004
NM_025233.7(COASY):c.1431C>T (p.Ala477=)	rs749293853	0.00004
NM_025233.7(COASY):c.1036C>T (p.Arg346Trp)	rs551629036	0.00003
NM_025233.7(COASY):c.778C>T (p.Pro260Ser)	rs756141692	0.00003
NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)	rs566973741	0.00002
NM_025233.7(COASY):c.1372C>T (p.Arg458Trp)	rs745865351	0.00002
NM_025233.7(COASY):c.1541G>A (p.Arg514Gln)	rs759078658	0.00002
NM_025233.7(COASY):c.1627C>T (p.Arg543Cys)	rs150098326	0.00002
NM_025233.7(COASY):c.1009C>T (p.Arg337Cys)	rs774485077	0.00001
NM_025233.7(COASY):c.1187A>G (p.Tyr396Cys)	rs375845459	0.00001
NM_025233.7(COASY):c.1219G>T (p.Val407Leu)	rs746252959	0.00001
NM_025233.7(COASY):c.1322C>T (p.Thr441Met)	rs767660167	0.00001
NM_025233.7(COASY):c.1432G>A (p.Gly478Ser)	rs374725383	0.00001
NM_025233.7(COASY):c.1486-13C>T	rs1002869698	0.00001
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)	rs140709867	0.00001
NM_025233.7(COASY):c.394C>T (p.Gln132Ter)	rs1567903711	0.00001
NM_025233.7(COASY):c.548C>T (p.Ser183Phe)	rs535796292	0.00001
NM_025233.7(COASY):c.700+20G>C	rs1188639990	0.00001
NM_025233.7(COASY):c.744G>A (p.Val248=)	rs759365582	0.00001
NM_025233.7(COASY):c.916-4C>G	rs530335241	0.00001
NM_025233.7(COASY):c.924G>T (p.Glu308Asp)	rs1350412532	0.00001
NM_025233.7(COASY):c.-439C>G	rs1555624532
NM_025233.7(COASY):c.1068A>T (p.Thr356=)	rs1219661290
NM_025233.7(COASY):c.1181G>A (p.Arg394Gln)
NM_025233.7(COASY):c.1222G>A (p.Glu408Lys)	rs71377286
NM_025233.7(COASY):c.1272G>T (p.Lys424Asn)	rs2092995076
NM_025233.7(COASY):c.1292T>C (p.Phe431Ser)	rs2143215135
NM_025233.7(COASY):c.1302+19del	rs778587218
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)	rs560987504
NM_025233.7(COASY):c.1477G>A (p.Glu493Lys)
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)	rs766482965
NM_025233.7(COASY):c.1561G>A (p.Gly521Arg)	rs372563296
NM_025233.7(COASY):c.193C>A (p.Leu65Ile)
NM_025233.7(COASY):c.201C>A (p.Phe67Leu)	rs1386059282
NM_025233.7(COASY):c.211C>A (p.Leu71Ile)	rs141350621
NM_025233.7(COASY):c.352T>C (p.Phe118Leu)	rs2143195037
NM_025233.7(COASY):c.476_478del (p.Gly159del)	rs771179370
NM_025233.7(COASY):c.578G>A (p.Arg193His)
NM_025233.7(COASY):c.604C>G (p.Arg202Gly)
NM_025233.7(COASY):c.616G>T (p.Ala206Ser)	rs1224711815
NM_025233.7(COASY):c.734C>T (p.Thr245Ile)
NM_025233.7(COASY):c.805C>T (p.Leu269=)	rs1555624916
NM_025233.7(COASY):c.80C>T (p.Thr27Ile)
NM_025233.7(COASY):c.825C>A (p.Pro275=)	rs148652390
NM_025233.7(COASY):c.825C>T (p.Pro275=)	rs148652390
NM_025233.7(COASY):c.845T>C (p.Leu282Pro)	rs2510680631
NM_025233.7(COASY):c.880G>T (p.Gly294Trp)	rs780099544

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